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Phenotypic Mutations
70
mutations affecting
64
genes are currently displayed.
Mutations Mapped and Identified Based on Phenotype
[records 1 to 70 of 70]
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UTSW
APN
Gene
E Score
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Allele
Chr
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X
Y
Chr Loc
Coordinate
Mode of Inheritance
Unknown
Autosomal Codominant
Autosomal Dominant
Autosomal Recessive
Autosomal Semidominant
X-linked Recessive
X-linked Dominant
Verification Probability
≥ 90%
≥ 80%
≥ 70%
≥ 60%
≥ 50%
≥ 40%
≥ 30%
≥ 20%
≥ 10%
≥ 0%
< 10%
< 20%
< 30%
< 40%
< 50%
< 60%
< 70%
< 80%
< 90%
No ML probability
Failed Initial Filter
OR is public
OR is verified
Updated
Phenotypic Category
all of
any of
125-03 Response - decreased
125-03 Response - increased
30 min GTT hyperglycemic
30 min GTT hyperglycemic (male)
30 min GTT hyperoglycemic (female)
30 min GTT hypoglycemic
30 min GTT hypoglycemic (female)
30 min GTT hypoglycemic (male)
adenovirus infection of macrophages - decreased
adenovirus infection of macrophages - increased
adipose tissue
anemia
Anophthalmia
Aut: Interaction - decreased
Aut: Interaction - increased
autoimmunity
behavior/neurological
Blood Analysis EO% - decreased
Blood Analysis EO% - increased
Blood Analysis Hb - decreased
Blood Analysis Hb - increased
Blood Analysis HCT - decreased
Blood Analysis HCT - increased
Blood Analysis LY# - decreased
Blood Analysis LY# - increased
Blood Analysis MCH - decreased
Blood Analysis MCH - increased
Blood Analysis MCHC - decreased
Blood Analysis MCHC - increased
Blood Analysis MCV - decreased
Blood Analysis MCV - increased
Blood Analysis MO# - decreased
Blood Analysis MO# - increased
Blood Analysis NE# - decreased
Blood Analysis NE# - increased
Blood Analysis Platelet Count - decreased
Blood Analysis Platelet Count - increased
Blood Analysis RBC - decreased
Blood Analysis RBC - increased
Blood Analysis RDW - decreased
Blood Analysis RDW - increased
Blood Analysis WBC - decreased
Blood Analysis WBC - increased
Blood Pressure: Pooled HR - decreased
Blood Pressure: Pooled HR - increased
Blood Pressure: Pooled SBP - decreased
Blood Pressure: Pooled SBP - increased
Body Weight - decreased
Body Weight - increased
Body Weight (BP, z-score, female) - decreased
Body Weight (BP, z-score, female) - increased
Body Weight (BP, z-score, male) - decreased
Body Weight (BP, z-score, male) - increased
Body Weight (DSS Female) - decreased
Body Weight (DSS Female) - increased
Body Weight (DSS Male) - decreased
Body Weight (DSS Male) - increased
Body Weight (DSS) - decreased
Body Weight (DSS) - increased
Body Weight (DSS, Day10) - decreased
Body Weight (DSS, Day10) - increased
Body Weight (DSS, Day7) - decreased
Body Weight (DSS, Day7) - increased
Body Weight (DSS, z-score) - decreased
Body Weight (DSS, z-score) - increased
Body Weight (DSS, z-score, female) - decreased
Body Weight (DSS, z-score, female) - increased
Body Weight (DSS, z-score, male) - decreased
Body Weight (DSS, z-score, male) - increased
Body Weight (Female) - decreased
Body Weight (Female) - increased
Body Weight (Male) - decreased
Body Weight (Male) - increased
Body Weight (Z-score) - decreased
Body Weight (Z-score) - increased
Body Weight (Z-score, female) - decreased
Body Weight (Z-score, female) - increased
Body Weight (Z-score, male) - decreased
Body Weight (Z-score, male) - increased
Bone: Femur Length (AI, residual) - decreased
Bone: Femur Length (AI, residual) - increased
Bone: Femur Length (AI, residual, female) - decreased
Bone: Femur Length (AI, residual, female) - increased
Bone: Femur Length (AI, residual, male) - decreased
Bone: Femur Length (AI, residual, male) - increased
Bone: Fore Hip Distance (AI) - decreased
Bone: Fore Hip Distance (AI) - increased
Bone: Fore Hip Distance (AI, female) - decreased
Bone: Fore Hip Distance (AI, female) - increased
Bone: Fore Hip Distance (AI, male) - decreased
Bone: Fore Hip Distance (AI, male) - increased
Bone: Hind Hip Distance (AI) - decreased
Bone: Hind Hip Distance (AI) - increased
Bone: Hind Hip Distance (AI, female) - decreased
Bone: Hind Hip Distance (AI, female) - increased
Bone: Hind Hip Distance (AI, male) - decreased
Bone: Hind Hip Distance (AI, male) - increased
Bone: Hip Ratio (AI) - decreased
Bone: Hip Ratio (AI) - increased
Bone: Pelvis Length (AI, residual) - decreased
Bone: Pelvis Length (AI, residual) - increased
Bone: Pelvis Length (AI, residual, female) - decreased
Bone: Pelvis Length (AI, residual, female) - increased
Bone: Pelvis Length (AI, residual, male) - decreased
Bone: Pelvis Length (AI, residual, male) - increased
Bone: Spine Deformity (female)
Bone: Spine Deformity (male)
Bone: Tibia Length (AI, residual) - decreased
Bone: Tibia Length (AI, residual) - increased
Bone: Tibia Length (AI, residual, female) - decreased
Bone: Tibia Length (AI, residual, female) - increased
Bone: Tibia Length (AI, residual, male) - decreased
Bone: Tibia Length (AI, residual, male) - increased
cardiovascular system
CD8 response - decreased
cellular phenotype
craniofacial
CTL killing - decreased
CTL killing - increased
CTL killing dominant epitope - decreased
CTL killing dominant epitope - increased
CTL killing subdominant epitope - decreased
CTL killing subdominant epitope - increased
digestive/alimentary
dsDNA Antibody - decreased
dsDNA Antibody - increased
dsDNA induced type I IFN production - decreased
dsDNA induced type I IFN production - increased
DSS: resistant
DSS: resistant day 10
DSS: resistant day 7
DSS: sensitive day 10
DSS: sensitive day 7
embryogenesis
endocrine/exocrine gland
extracellular cGAMP: high response
extracellular cGAMP: low response
eye: micro-ophthalmia
Eye: SL-OCT BM to ILM thickness - decreased
Eye: SL-OCT BM to ILM thickness - increased
Eye: SL-OCT BM to ILM thickness (base) - decreased
Eye: SL-OCT BM to ILM thickness (base) - increased
Eye: SL-OCT BM to ILM thickness (delta) - decreased
Eye: SL-OCT BM to ILM thickness (delta) - increased
Eye: SL-OCT INL to ILM thickness - decreased
Eye: SL-OCT INL to ILM thickness - increased
Eye: SL-OCT INL to ILM thickness (base) - decreased
Eye: SL-OCT INL to ILM thickness (base) - increased
Eye: SL-OCT INL to ILM thickness (delta) - decreased
Eye: SL-OCT INL to ILM thickness (delta) - increased
Eye: SL-OCT IPL to ILM thickness - decreased
Eye: SL-OCT IPL to ILM thickness - increased
Eye: SL-OCT IPL to ILM thickness (base) - decreased
Eye: SL-OCT IPL to ILM thickness (base) - increased
Eye: SL-OCT IPL to ILM thickness (delta) - decreased
Eye: SL-OCT IPL to ILM thickness (delta) - increased
FACS B cells - decreased
FACS B cells - increased
FACS B:T cells - decreased
FACS B:T cells - increased
FACS B1 cells - decreased
FACS B1 cells - increased
FACS B1a cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1a cells in B1 cells - increased
FACS B1b cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS B2 cells - decreased
FACS B2 cells - increased
FACS B220 MFI - decreased
FACS B220 MFI - increased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD11c+ DCs - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - decreased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - decreased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS CD8a+ DCs (gated in CD11c+ cells) - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - decreased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS effector T cells - decreased
FACS effector T cells - increased
FACS IgD MFI - decreased
FACS IgD MFI - increased
FACS IgD+ B cell percentage - decreased
FACS IgD+ B cell percentage - increased
FACS IgM MFI - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS IgM+ B cells - increased
FACS macrophages - decreased
FACS macrophages - increased
FACS memory T cells - decreased
FACS memory T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD4 T cells in CD4 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - increased
FACS naive T cells - decreased
FACS naive T cells - increased
FACS neutrophils - decreased
FACS neutrophils - increased
FACS NK cells - decreased
FACS NK cells - increased
FACS NK1.1+ T cells - decreased
FACS NK1.1+ T cells - increased
FACS NKT cells (tet) - decreased
FACS NKT cells (tet) - increased
FACS pDCs - decreased
FACS pDCs - increased
FACS T cells - decreased
FACS T cells - increased
growth/size
hearing/vestibular/ear
hematopoietic competition - disadvantage
hematopoietic system
homeostasis/metabolism
IgA response to 2nd OVA/Alum Challenge (day 7) - decreased
IgA response to 2nd OVA/Alum Challenge (day 7) - increased
IgE response to a Cysteine Protease (Papain) - decreased
IgE response to a Cysteine Protease (Papain) - increased
IgG1 response to a Cysteine Protease (Papain) - decreased
IgG1 response to a Cysteine Protease (Papain) - increased
immune system
impaired response to dsDNA- type I IFN production by macrophages
inflammatory bowel disease phenotype
influenza proliferation in macrophages - decreased
influenza proliferation in macrophages - increased
influenza resistance
iron deficiency
iron excess
LCMV clone 13 resistance
lethality-embryonic/perinatal
lethality-postnatal
life span-post-weaning/aging
limbs/digits/tail phenotype
liver/biliary system
LPS Cachexia: Body Weight (day 0) - decreased
LPS Cachexia: Body Weight (day 0) - increased
LPS Cachexia: Body Weight (day 0, z-score) - decreased
LPS Cachexia: Body Weight (day 0, z-score) - increased
LPS Cachexia: Body Weight (day 1) - decreased
LPS Cachexia: Body Weight (day 1) - increased
LPS Cachexia: Body Weight (day 14) - decreased
LPS Cachexia: Body Weight (day 14) - increased
LPS Cachexia: Body Weight (day 2) - decreased
LPS Cachexia: Body Weight (day 2) - increased
LPS Cachexia: Body Weight Change (day 1, g) - decreased
LPS Cachexia: Body Weight Change (day 1, g) - increased
LPS Cachexia: Body Weight Change (day 1, ratio) - decreased
LPS Cachexia: Body Weight Change (day 1, ratio) - increased
LPS Cachexia: Body Weight Change (day 14, g) - decreased
LPS Cachexia: Body Weight Change (day 14, g) - increased
LPS Cachexia: Body Weight Change (day 14, ratio) - decreased
LPS Cachexia: Body Weight Change (day 14, ratio) - increased
LPS Cachexia: Body Weight Change (day 2, g) - decreased
LPS Cachexia: Body Weight Change (day 2, g) - increased
LPS Cachexia: Body Weight Change (day 2, ratio) - decreased
LPS Cachexia: Body Weight Change (day 2, ratio) - increased
LPS Hypersensitivity - decreased
LPS Hypersensitivity - increased
LPS-induced Necroptosis - decreased
LPS-induced Necroptosis - increased
Macrophage necroptosis: high
Macrophage necroptosis: low
MC38 tumor body weight change (%) - decreased
MC38 tumor body weight change (%) - increased
MC38 tumor body weight change (%, female) - decreased
MC38 tumor body weight change (%, female) - increased
MC38 tumor body weight change (%, male) - decreased
MC38 tumor body weight change (%, male) - increased
MC38 tumor body weight change (g) - decreased
MC38 tumor body weight change (g) - increased
MC38 tumor body weight change (g, female) - decreased
MC38 tumor body weight change (g, female) - increased
MC38 tumor body weight change (g, male) - decreased
MC38 tumor body weight change (g, male) - increased
MC38 tumor volume (day 22) - decreased
MC38 tumor volume (day 22) - increased
MC38 tumor volume (day 22, early sac sick or found dead, IM injection, dermatitis, trimmed) - decreased
MC38 tumor volume (day 22, early sac sick or found dead, IM injection, dermatitis, trimmed) - increased
MCMV proliferation in macrophages - decreased
MCMV proliferation in macrophages - increased
MCMV resistance
MCMV susceptibility
MTT dsDNA PECs - decreased
MTT dsDNA PECs - increased
MTT Value of PECs - decreased
MTT Value of PECs - increased
muscle
NALP3 inflammasome signaling defect
nervous system
NK cell response - decreased
NK killing - decreased
NK killing - increased
Nlrc4 inflammasome: high response
Nlrc4 inflammasome: low response
NLRP3 inflammasome: high response
NLRP3 inflammasome: low response
no phenotypic analysis
normal phenotype
other phenotype
OVA-specific IgE - decreased
OVA-specific IgE - increased
OVA-specific IgE after 2nd OVA/Alum - decreased
OVA-specific IgE after 2nd OVA/Alum - increased
Peritoneal exudates B1a cell % - decreased
Peritoneal exudates B1a cell % - increased
Peritoneal exudates B1a cell numbers - decreased
Peritoneal exudates B1a cell numbers - increased
Peritoneal exudates B1b cell % - decreased
Peritoneal exudates B1b cell % - increased
Peritoneal exudates B1b cell numbers - decreased
Peritoneal exudates B1b cell numbers - increased
Peritoneal exudates macrophage % - decreased
Peritoneal exudates macrophage % - increased
Peritoneal exudates macrophage numbers - decreased
Peritoneal exudates macrophage numbers - increased
Peritoneal exudates neutrophil % - decreased
Peritoneal exudates neutrophil % - increased
Peritoneal exudates neutrophil numbers - decreased
Peritoneal exudates neutrophil numbers - increased
phagocytosis in PECs - decreased
phagocytosis in PECs - increased
pigmentation
polycythemia
post-MCMV FACS B cells - decreased
post-MCMV FACS B cells - increased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B:T cells - increased
post-MCMV FACS B1 cells - decreased
post-MCMV FACS B1 cells - increased
post-MCMV FACS B1a cells - decreased
post-MCMV FACS B1a cells - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1a cells in B1 cells - increased
post-MCMV FACS B1b cells - decreased
post-MCMV FACS B1b cells - increased
post-MCMV FACS B1b cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
post-MCMV FACS B2 cells - decreased
post-MCMV FACS B2 cells - increased
post-MCMV FACS B220 MFI - decreased
post-MCMV FACS B220 MFI - increased
post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - increased
post-MCMV FACS CD11c+ DCs - decreased
post-MCMV FACS CD11c+ DCs - increased
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD4+ T cells - increased
post-MCMV FACS CD4+ T cells in CD3+ T cells - decreased
post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
post-MCMV FACS CD44+ CD4 MFI - decreased
post-MCMV FACS CD44+ CD4 MFI - increased
post-MCMV FACS CD44+ CD4 T cells - decreased
post-MCMV FACS CD44+ CD4 T cells - increased
post-MCMV FACS CD44+ CD8 MFI - decreased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD44+ CD8 T cells - decreased
post-MCMV FACS CD44+ CD8 T cells - increased
post-MCMV FACS CD44+ T cells - decreased
post-MCMV FACS CD44+ T cells - increased
post-MCMV FACS CD44+ T MFI - decreased
post-MCMV FACS CD44+ T MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells - increased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - decreased
post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - increased
post-MCMV FACS central memory CD4 T cells in CD4 T cells - decreased
post-MCMV FACS central memory CD4 T cells in CD4 T cells - increased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - decreased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased
post-MCMV FACS effector memory CD4 T cells in CD4 T cells - increased
post-MCMV FACS effector memory CD8 T cells in CD8 T cells - decreased
post-MCMV FACS effector memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS effector T cells - decreased
post-MCMV FACS effector T cells - increased
post-MCMV FACS IgD MFI - decreased
post-MCMV FACS IgD MFI - increased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgD+ B cell percentage - increased
post-MCMV FACS IgM MFI - decreased
post-MCMV FACS IgM MFI - increased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS IgM+ B cells - increased
post-MCMV FACS macrophages - decreased
post-MCMV FACS macrophages - increased
post-MCMV FACS memory T cells - decreased
post-MCMV FACS memory T cells - increased
post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS naive CD4 T cells in CD4 T cells - increased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - increased
post-MCMV FACS naive T cells - decreased
post-MCMV FACS naive T cells - increased
post-MCMV FACS neutrophils - decreased
post-MCMV FACS neutrophils - increased
post-MCMV FACS NK cells - decreased
post-MCMV FACS NK cells - increased
post-MCMV FACS NK T cells - decreased
post-MCMV FACS NK T cells - increased
post-MCMV FACS NKT cells (tet) - decreased
post-MCMV FACS NKT cells (tet) - increased
post-MCMV FACS pDCs - decreased
post-MCMV FACS pDCs - increased
post-MCMV FACS T cells - decreased
post-MCMV FACS T cells - increased
ratio of OVA-specific IgE over the total IgE - decreased
ratio of OVA-specific IgE over the total IgE - increased
renal/urinary system
reproductive system
resistance to B10-F16 melanoma - decreased
resistance to B10-F16 melanoma - increased
respiratory system
response to injected CpG DNA - decreased
RVFV proliferation in macrophages - decreased
RVFV proliferation in macrophages - increased
RVFV susceptibility
secretory SlgA after 2nd OVA/Alum Challenge (day 7) - decreased
secretory SlgA after 2nd OVA/Alum Challenge (day 7) - increased
skeleton phenotype
skin/coat/nails
taste/olfaction
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-dependent humoral response defect- increased antibody response to OVA+ alum immunization
T-dependent humoral response defect- increased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to MALP2
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to poly I:C
TLR signaling defect: hypersensitivity to poly I:C + IFNg
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: hyposensitivity to CpG + IFNg
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to MALP2
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: hyposensitivity to poly I:C + IFNg
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
total IgE after 2nd OVA/Alum - decreased
total IgE after 2nd OVA/Alum - increased
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
total IgE level - decreased
total IgE level - increased
touch/vibrissae
tumorigenesis
vision/eye
and
any of
none of
125-03 Response - decreased
125-03 Response - increased
30 min GTT hyperglycemic
30 min GTT hyperglycemic (male)
30 min GTT hyperoglycemic (female)
30 min GTT hypoglycemic
30 min GTT hypoglycemic (female)
30 min GTT hypoglycemic (male)
adenovirus infection of macrophages - decreased
adenovirus infection of macrophages - increased
adipose tissue
anemia
Anophthalmia
Aut: Interaction - decreased
Aut: Interaction - increased
autoimmunity
behavior/neurological
Blood Analysis EO% - decreased
Blood Analysis EO% - increased
Blood Analysis Hb - decreased
Blood Analysis Hb - increased
Blood Analysis HCT - decreased
Blood Analysis HCT - increased
Blood Analysis LY# - decreased
Blood Analysis LY# - increased
Blood Analysis MCH - decreased
Blood Analysis MCH - increased
Blood Analysis MCHC - decreased
Blood Analysis MCHC - increased
Blood Analysis MCV - decreased
Blood Analysis MCV - increased
Blood Analysis MO# - decreased
Blood Analysis MO# - increased
Blood Analysis NE# - decreased
Blood Analysis NE# - increased
Blood Analysis Platelet Count - decreased
Blood Analysis Platelet Count - increased
Blood Analysis RBC - decreased
Blood Analysis RBC - increased
Blood Analysis RDW - decreased
Blood Analysis RDW - increased
Blood Analysis WBC - decreased
Blood Analysis WBC - increased
Blood Pressure: Pooled HR - decreased
Blood Pressure: Pooled HR - increased
Blood Pressure: Pooled SBP - decreased
Blood Pressure: Pooled SBP - increased
Body Weight - decreased
Body Weight - increased
Body Weight (BP, z-score, female) - decreased
Body Weight (BP, z-score, female) - increased
Body Weight (BP, z-score, male) - decreased
Body Weight (BP, z-score, male) - increased
Body Weight (DSS Female) - decreased
Body Weight (DSS Female) - increased
Body Weight (DSS Male) - decreased
Body Weight (DSS Male) - increased
Body Weight (DSS) - decreased
Body Weight (DSS) - increased
Body Weight (DSS, Day10) - decreased
Body Weight (DSS, Day10) - increased
Body Weight (DSS, Day7) - decreased
Body Weight (DSS, Day7) - increased
Body Weight (DSS, z-score) - decreased
Body Weight (DSS, z-score) - increased
Body Weight (DSS, z-score, female) - decreased
Body Weight (DSS, z-score, female) - increased
Body Weight (DSS, z-score, male) - decreased
Body Weight (DSS, z-score, male) - increased
Body Weight (Female) - decreased
Body Weight (Female) - increased
Body Weight (Male) - decreased
Body Weight (Male) - increased
Body Weight (Z-score) - decreased
Body Weight (Z-score) - increased
Body Weight (Z-score, female) - decreased
Body Weight (Z-score, female) - increased
Body Weight (Z-score, male) - decreased
Body Weight (Z-score, male) - increased
Bone: Femur Length (AI, residual) - decreased
Bone: Femur Length (AI, residual) - increased
Bone: Femur Length (AI, residual, female) - decreased
Bone: Femur Length (AI, residual, female) - increased
Bone: Femur Length (AI, residual, male) - decreased
Bone: Femur Length (AI, residual, male) - increased
Bone: Fore Hip Distance (AI) - decreased
Bone: Fore Hip Distance (AI) - increased
Bone: Fore Hip Distance (AI, female) - decreased
Bone: Fore Hip Distance (AI, female) - increased
Bone: Fore Hip Distance (AI, male) - decreased
Bone: Fore Hip Distance (AI, male) - increased
Bone: Hind Hip Distance (AI) - decreased
Bone: Hind Hip Distance (AI) - increased
Bone: Hind Hip Distance (AI, female) - decreased
Bone: Hind Hip Distance (AI, female) - increased
Bone: Hind Hip Distance (AI, male) - decreased
Bone: Hind Hip Distance (AI, male) - increased
Bone: Hip Ratio (AI) - decreased
Bone: Hip Ratio (AI) - increased
Bone: Pelvis Length (AI, residual) - decreased
Bone: Pelvis Length (AI, residual) - increased
Bone: Pelvis Length (AI, residual, female) - decreased
Bone: Pelvis Length (AI, residual, female) - increased
Bone: Pelvis Length (AI, residual, male) - decreased
Bone: Pelvis Length (AI, residual, male) - increased
Bone: Spine Deformity (female)
Bone: Spine Deformity (male)
Bone: Tibia Length (AI, residual) - decreased
Bone: Tibia Length (AI, residual) - increased
Bone: Tibia Length (AI, residual, female) - decreased
Bone: Tibia Length (AI, residual, female) - increased
Bone: Tibia Length (AI, residual, male) - decreased
Bone: Tibia Length (AI, residual, male) - increased
cardiovascular system
CD8 response - decreased
cellular phenotype
craniofacial
CTL killing - decreased
CTL killing - increased
CTL killing dominant epitope - decreased
CTL killing dominant epitope - increased
CTL killing subdominant epitope - decreased
CTL killing subdominant epitope - increased
digestive/alimentary
dsDNA Antibody - decreased
dsDNA Antibody - increased
dsDNA induced type I IFN production - decreased
dsDNA induced type I IFN production - increased
DSS: resistant
DSS: resistant day 10
DSS: resistant day 7
DSS: sensitive day 10
DSS: sensitive day 7
embryogenesis
endocrine/exocrine gland
extracellular cGAMP: high response
extracellular cGAMP: low response
eye: micro-ophthalmia
Eye: SL-OCT BM to ILM thickness - decreased
Eye: SL-OCT BM to ILM thickness - increased
Eye: SL-OCT BM to ILM thickness (base) - decreased
Eye: SL-OCT BM to ILM thickness (base) - increased
Eye: SL-OCT BM to ILM thickness (delta) - decreased
Eye: SL-OCT BM to ILM thickness (delta) - increased
Eye: SL-OCT INL to ILM thickness - decreased
Eye: SL-OCT INL to ILM thickness - increased
Eye: SL-OCT INL to ILM thickness (base) - decreased
Eye: SL-OCT INL to ILM thickness (base) - increased
Eye: SL-OCT INL to ILM thickness (delta) - decreased
Eye: SL-OCT INL to ILM thickness (delta) - increased
Eye: SL-OCT IPL to ILM thickness - decreased
Eye: SL-OCT IPL to ILM thickness - increased
Eye: SL-OCT IPL to ILM thickness (base) - decreased
Eye: SL-OCT IPL to ILM thickness (base) - increased
Eye: SL-OCT IPL to ILM thickness (delta) - decreased
Eye: SL-OCT IPL to ILM thickness (delta) - increased
FACS B cells - decreased
FACS B cells - increased
FACS B:T cells - decreased
FACS B:T cells - increased
FACS B1 cells - decreased
FACS B1 cells - increased
FACS B1a cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1a cells in B1 cells - increased
FACS B1b cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS B2 cells - decreased
FACS B2 cells - increased
FACS B220 MFI - decreased
FACS B220 MFI - increased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD11c+ DCs - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - decreased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - decreased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS CD8a+ DCs (gated in CD11c+ cells) - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - decreased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS effector T cells - decreased
FACS effector T cells - increased
FACS IgD MFI - decreased
FACS IgD MFI - increased
FACS IgD+ B cell percentage - decreased
FACS IgD+ B cell percentage - increased
FACS IgM MFI - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS IgM+ B cells - increased
FACS macrophages - decreased
FACS macrophages - increased
FACS memory T cells - decreased
FACS memory T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD4 T cells in CD4 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - increased
FACS naive T cells - decreased
FACS naive T cells - increased
FACS neutrophils - decreased
FACS neutrophils - increased
FACS NK cells - decreased
FACS NK cells - increased
FACS NK1.1+ T cells - decreased
FACS NK1.1+ T cells - increased
FACS NKT cells (tet) - decreased
FACS NKT cells (tet) - increased
FACS pDCs - decreased
FACS pDCs - increased
FACS T cells - decreased
FACS T cells - increased
growth/size
hearing/vestibular/ear
hematopoietic competition - disadvantage
hematopoietic system
homeostasis/metabolism
IgA response to 2nd OVA/Alum Challenge (day 7) - decreased
IgA response to 2nd OVA/Alum Challenge (day 7) - increased
IgE response to a Cysteine Protease (Papain) - decreased
IgE response to a Cysteine Protease (Papain) - increased
IgG1 response to a Cysteine Protease (Papain) - decreased
IgG1 response to a Cysteine Protease (Papain) - increased
immune system
impaired response to dsDNA- type I IFN production by macrophages
inflammatory bowel disease phenotype
influenza proliferation in macrophages - decreased
influenza proliferation in macrophages - increased
influenza resistance
iron deficiency
iron excess
LCMV clone 13 resistance
lethality-embryonic/perinatal
lethality-postnatal
life span-post-weaning/aging
limbs/digits/tail phenotype
liver/biliary system
LPS Cachexia: Body Weight (day 0) - decreased
LPS Cachexia: Body Weight (day 0) - increased
LPS Cachexia: Body Weight (day 0, z-score) - decreased
LPS Cachexia: Body Weight (day 0, z-score) - increased
LPS Cachexia: Body Weight (day 1) - decreased
LPS Cachexia: Body Weight (day 1) - increased
LPS Cachexia: Body Weight (day 14) - decreased
LPS Cachexia: Body Weight (day 14) - increased
LPS Cachexia: Body Weight (day 2) - decreased
LPS Cachexia: Body Weight (day 2) - increased
LPS Cachexia: Body Weight Change (day 1, g) - decreased
LPS Cachexia: Body Weight Change (day 1, g) - increased
LPS Cachexia: Body Weight Change (day 1, ratio) - decreased
LPS Cachexia: Body Weight Change (day 1, ratio) - increased
LPS Cachexia: Body Weight Change (day 14, g) - decreased
LPS Cachexia: Body Weight Change (day 14, g) - increased
LPS Cachexia: Body Weight Change (day 14, ratio) - decreased
LPS Cachexia: Body Weight Change (day 14, ratio) - increased
LPS Cachexia: Body Weight Change (day 2, g) - decreased
LPS Cachexia: Body Weight Change (day 2, g) - increased
LPS Cachexia: Body Weight Change (day 2, ratio) - decreased
LPS Cachexia: Body Weight Change (day 2, ratio) - increased
LPS Hypersensitivity - decreased
LPS Hypersensitivity - increased
LPS-induced Necroptosis - decreased
LPS-induced Necroptosis - increased
Macrophage necroptosis: high
Macrophage necroptosis: low
MC38 tumor body weight change (%) - decreased
MC38 tumor body weight change (%) - increased
MC38 tumor body weight change (%, female) - decreased
MC38 tumor body weight change (%, female) - increased
MC38 tumor body weight change (%, male) - decreased
MC38 tumor body weight change (%, male) - increased
MC38 tumor body weight change (g) - decreased
MC38 tumor body weight change (g) - increased
MC38 tumor body weight change (g, female) - decreased
MC38 tumor body weight change (g, female) - increased
MC38 tumor body weight change (g, male) - decreased
MC38 tumor body weight change (g, male) - increased
MC38 tumor volume (day 22) - decreased
MC38 tumor volume (day 22) - increased
MC38 tumor volume (day 22, early sac sick or found dead, IM injection, dermatitis, trimmed) - decreased
MC38 tumor volume (day 22, early sac sick or found dead, IM injection, dermatitis, trimmed) - increased
MCMV proliferation in macrophages - decreased
MCMV proliferation in macrophages - increased
MCMV resistance
MCMV susceptibility
MTT dsDNA PECs - decreased
MTT dsDNA PECs - increased
MTT Value of PECs - decreased
MTT Value of PECs - increased
muscle
NALP3 inflammasome signaling defect
nervous system
NK cell response - decreased
NK killing - decreased
NK killing - increased
Nlrc4 inflammasome: high response
Nlrc4 inflammasome: low response
NLRP3 inflammasome: high response
NLRP3 inflammasome: low response
no phenotypic analysis
normal phenotype
other phenotype
OVA-specific IgE - decreased
OVA-specific IgE - increased
OVA-specific IgE after 2nd OVA/Alum - decreased
OVA-specific IgE after 2nd OVA/Alum - increased
Peritoneal exudates B1a cell % - decreased
Peritoneal exudates B1a cell % - increased
Peritoneal exudates B1a cell numbers - decreased
Peritoneal exudates B1a cell numbers - increased
Peritoneal exudates B1b cell % - decreased
Peritoneal exudates B1b cell % - increased
Peritoneal exudates B1b cell numbers - decreased
Peritoneal exudates B1b cell numbers - increased
Peritoneal exudates macrophage % - decreased
Peritoneal exudates macrophage % - increased
Peritoneal exudates macrophage numbers - decreased
Peritoneal exudates macrophage numbers - increased
Peritoneal exudates neutrophil % - decreased
Peritoneal exudates neutrophil % - increased
Peritoneal exudates neutrophil numbers - decreased
Peritoneal exudates neutrophil numbers - increased
phagocytosis in PECs - decreased
phagocytosis in PECs - increased
pigmentation
polycythemia
post-MCMV FACS B cells - decreased
post-MCMV FACS B cells - increased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B:T cells - increased
post-MCMV FACS B1 cells - decreased
post-MCMV FACS B1 cells - increased
post-MCMV FACS B1a cells - decreased
post-MCMV FACS B1a cells - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1a cells in B1 cells - increased
post-MCMV FACS B1b cells - decreased
post-MCMV FACS B1b cells - increased
post-MCMV FACS B1b cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
post-MCMV FACS B2 cells - decreased
post-MCMV FACS B2 cells - increased
post-MCMV FACS B220 MFI - decreased
post-MCMV FACS B220 MFI - increased
post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - increased
post-MCMV FACS CD11c+ DCs - decreased
post-MCMV FACS CD11c+ DCs - increased
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD4+ T cells - increased
post-MCMV FACS CD4+ T cells in CD3+ T cells - decreased
post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
post-MCMV FACS CD44+ CD4 MFI - decreased
post-MCMV FACS CD44+ CD4 MFI - increased
post-MCMV FACS CD44+ CD4 T cells - decreased
post-MCMV FACS CD44+ CD4 T cells - increased
post-MCMV FACS CD44+ CD8 MFI - decreased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD44+ CD8 T cells - decreased
post-MCMV FACS CD44+ CD8 T cells - increased
post-MCMV FACS CD44+ T cells - decreased
post-MCMV FACS CD44+ T cells - increased
post-MCMV FACS CD44+ T MFI - decreased
post-MCMV FACS CD44+ T MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells - increased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - decreased
post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - increased
post-MCMV FACS central memory CD4 T cells in CD4 T cells - decreased
post-MCMV FACS central memory CD4 T cells in CD4 T cells - increased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - decreased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased
post-MCMV FACS effector memory CD4 T cells in CD4 T cells - increased
post-MCMV FACS effector memory CD8 T cells in CD8 T cells - decreased
post-MCMV FACS effector memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS effector T cells - decreased
post-MCMV FACS effector T cells - increased
post-MCMV FACS IgD MFI - decreased
post-MCMV FACS IgD MFI - increased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgD+ B cell percentage - increased
post-MCMV FACS IgM MFI - decreased
post-MCMV FACS IgM MFI - increased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS IgM+ B cells - increased
post-MCMV FACS macrophages - decreased
post-MCMV FACS macrophages - increased
post-MCMV FACS memory T cells - decreased
post-MCMV FACS memory T cells - increased
post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS naive CD4 T cells in CD4 T cells - increased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - increased
post-MCMV FACS naive T cells - decreased
post-MCMV FACS naive T cells - increased
post-MCMV FACS neutrophils - decreased
post-MCMV FACS neutrophils - increased
post-MCMV FACS NK cells - decreased
post-MCMV FACS NK cells - increased
post-MCMV FACS NK T cells - decreased
post-MCMV FACS NK T cells - increased
post-MCMV FACS NKT cells (tet) - decreased
post-MCMV FACS NKT cells (tet) - increased
post-MCMV FACS pDCs - decreased
post-MCMV FACS pDCs - increased
post-MCMV FACS T cells - decreased
post-MCMV FACS T cells - increased
ratio of OVA-specific IgE over the total IgE - decreased
ratio of OVA-specific IgE over the total IgE - increased
renal/urinary system
reproductive system
resistance to B10-F16 melanoma - decreased
resistance to B10-F16 melanoma - increased
respiratory system
response to injected CpG DNA - decreased
RVFV proliferation in macrophages - decreased
RVFV proliferation in macrophages - increased
RVFV susceptibility
secretory SlgA after 2nd OVA/Alum Challenge (day 7) - decreased
secretory SlgA after 2nd OVA/Alum Challenge (day 7) - increased
skeleton phenotype
skin/coat/nails
taste/olfaction
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-dependent humoral response defect- increased antibody response to OVA+ alum immunization
T-dependent humoral response defect- increased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to MALP2
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to poly I:C
TLR signaling defect: hypersensitivity to poly I:C + IFNg
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: hyposensitivity to CpG + IFNg
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to MALP2
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: hyposensitivity to poly I:C + IFNg
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
total IgE after 2nd OVA/Alum - decreased
total IgE after 2nd OVA/Alum - increased
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
total IgE level - decreased
total IgE level - increased
touch/vibrissae
tumorigenesis
vision/eye
and
none of
any of
125-03 Response - decreased
125-03 Response - increased
30 min GTT hyperglycemic
30 min GTT hyperglycemic (male)
30 min GTT hyperoglycemic (female)
30 min GTT hypoglycemic
30 min GTT hypoglycemic (female)
30 min GTT hypoglycemic (male)
adenovirus infection of macrophages - decreased
adenovirus infection of macrophages - increased
adipose tissue
anemia
Anophthalmia
Aut: Interaction - decreased
Aut: Interaction - increased
autoimmunity
behavior/neurological
Blood Analysis EO% - decreased
Blood Analysis EO% - increased
Blood Analysis Hb - decreased
Blood Analysis Hb - increased
Blood Analysis HCT - decreased
Blood Analysis HCT - increased
Blood Analysis LY# - decreased
Blood Analysis LY# - increased
Blood Analysis MCH - decreased
Blood Analysis MCH - increased
Blood Analysis MCHC - decreased
Blood Analysis MCHC - increased
Blood Analysis MCV - decreased
Blood Analysis MCV - increased
Blood Analysis MO# - decreased
Blood Analysis MO# - increased
Blood Analysis NE# - decreased
Blood Analysis NE# - increased
Blood Analysis Platelet Count - decreased
Blood Analysis Platelet Count - increased
Blood Analysis RBC - decreased
Blood Analysis RBC - increased
Blood Analysis RDW - decreased
Blood Analysis RDW - increased
Blood Analysis WBC - decreased
Blood Analysis WBC - increased
Blood Pressure: Pooled HR - decreased
Blood Pressure: Pooled HR - increased
Blood Pressure: Pooled SBP - decreased
Blood Pressure: Pooled SBP - increased
Body Weight - decreased
Body Weight - increased
Body Weight (BP, z-score, female) - decreased
Body Weight (BP, z-score, female) - increased
Body Weight (BP, z-score, male) - decreased
Body Weight (BP, z-score, male) - increased
Body Weight (DSS Female) - decreased
Body Weight (DSS Female) - increased
Body Weight (DSS Male) - decreased
Body Weight (DSS Male) - increased
Body Weight (DSS) - decreased
Body Weight (DSS) - increased
Body Weight (DSS, Day10) - decreased
Body Weight (DSS, Day10) - increased
Body Weight (DSS, Day7) - decreased
Body Weight (DSS, Day7) - increased
Body Weight (DSS, z-score) - decreased
Body Weight (DSS, z-score) - increased
Body Weight (DSS, z-score, female) - decreased
Body Weight (DSS, z-score, female) - increased
Body Weight (DSS, z-score, male) - decreased
Body Weight (DSS, z-score, male) - increased
Body Weight (Female) - decreased
Body Weight (Female) - increased
Body Weight (Male) - decreased
Body Weight (Male) - increased
Body Weight (Z-score) - decreased
Body Weight (Z-score) - increased
Body Weight (Z-score, female) - decreased
Body Weight (Z-score, female) - increased
Body Weight (Z-score, male) - decreased
Body Weight (Z-score, male) - increased
Bone: Femur Length (AI, residual) - decreased
Bone: Femur Length (AI, residual) - increased
Bone: Femur Length (AI, residual, female) - decreased
Bone: Femur Length (AI, residual, female) - increased
Bone: Femur Length (AI, residual, male) - decreased
Bone: Femur Length (AI, residual, male) - increased
Bone: Fore Hip Distance (AI) - decreased
Bone: Fore Hip Distance (AI) - increased
Bone: Fore Hip Distance (AI, female) - decreased
Bone: Fore Hip Distance (AI, female) - increased
Bone: Fore Hip Distance (AI, male) - decreased
Bone: Fore Hip Distance (AI, male) - increased
Bone: Hind Hip Distance (AI) - decreased
Bone: Hind Hip Distance (AI) - increased
Bone: Hind Hip Distance (AI, female) - decreased
Bone: Hind Hip Distance (AI, female) - increased
Bone: Hind Hip Distance (AI, male) - decreased
Bone: Hind Hip Distance (AI, male) - increased
Bone: Hip Ratio (AI) - decreased
Bone: Hip Ratio (AI) - increased
Bone: Pelvis Length (AI, residual) - decreased
Bone: Pelvis Length (AI, residual) - increased
Bone: Pelvis Length (AI, residual, female) - decreased
Bone: Pelvis Length (AI, residual, female) - increased
Bone: Pelvis Length (AI, residual, male) - decreased
Bone: Pelvis Length (AI, residual, male) - increased
Bone: Spine Deformity (female)
Bone: Spine Deformity (male)
Bone: Tibia Length (AI, residual) - decreased
Bone: Tibia Length (AI, residual) - increased
Bone: Tibia Length (AI, residual, female) - decreased
Bone: Tibia Length (AI, residual, female) - increased
Bone: Tibia Length (AI, residual, male) - decreased
Bone: Tibia Length (AI, residual, male) - increased
cardiovascular system
CD8 response - decreased
cellular phenotype
craniofacial
CTL killing - decreased
CTL killing - increased
CTL killing dominant epitope - decreased
CTL killing dominant epitope - increased
CTL killing subdominant epitope - decreased
CTL killing subdominant epitope - increased
digestive/alimentary
dsDNA Antibody - decreased
dsDNA Antibody - increased
dsDNA induced type I IFN production - decreased
dsDNA induced type I IFN production - increased
DSS: resistant
DSS: resistant day 10
DSS: resistant day 7
DSS: sensitive day 10
DSS: sensitive day 7
embryogenesis
endocrine/exocrine gland
extracellular cGAMP: high response
extracellular cGAMP: low response
eye: micro-ophthalmia
Eye: SL-OCT BM to ILM thickness - decreased
Eye: SL-OCT BM to ILM thickness - increased
Eye: SL-OCT BM to ILM thickness (base) - decreased
Eye: SL-OCT BM to ILM thickness (base) - increased
Eye: SL-OCT BM to ILM thickness (delta) - decreased
Eye: SL-OCT BM to ILM thickness (delta) - increased
Eye: SL-OCT INL to ILM thickness - decreased
Eye: SL-OCT INL to ILM thickness - increased
Eye: SL-OCT INL to ILM thickness (base) - decreased
Eye: SL-OCT INL to ILM thickness (base) - increased
Eye: SL-OCT INL to ILM thickness (delta) - decreased
Eye: SL-OCT INL to ILM thickness (delta) - increased
Eye: SL-OCT IPL to ILM thickness - decreased
Eye: SL-OCT IPL to ILM thickness - increased
Eye: SL-OCT IPL to ILM thickness (base) - decreased
Eye: SL-OCT IPL to ILM thickness (base) - increased
Eye: SL-OCT IPL to ILM thickness (delta) - decreased
Eye: SL-OCT IPL to ILM thickness (delta) - increased
FACS B cells - decreased
FACS B cells - increased
FACS B:T cells - decreased
FACS B:T cells - increased
FACS B1 cells - decreased
FACS B1 cells - increased
FACS B1a cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1a cells in B1 cells - increased
FACS B1b cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS B2 cells - decreased
FACS B2 cells - increased
FACS B220 MFI - decreased
FACS B220 MFI - increased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD11c+ DCs - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - decreased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - decreased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS CD8a+ DCs (gated in CD11c+ cells) - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - decreased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS effector T cells - decreased
FACS effector T cells - increased
FACS IgD MFI - decreased
FACS IgD MFI - increased
FACS IgD+ B cell percentage - decreased
FACS IgD+ B cell percentage - increased
FACS IgM MFI - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS IgM+ B cells - increased
FACS macrophages - decreased
FACS macrophages - increased
FACS memory T cells - decreased
FACS memory T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD4 T cells in CD4 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - increased
FACS naive T cells - decreased
FACS naive T cells - increased
FACS neutrophils - decreased
FACS neutrophils - increased
FACS NK cells - decreased
FACS NK cells - increased
FACS NK1.1+ T cells - decreased
FACS NK1.1+ T cells - increased
FACS NKT cells (tet) - decreased
FACS NKT cells (tet) - increased
FACS pDCs - decreased
FACS pDCs - increased
FACS T cells - decreased
FACS T cells - increased
growth/size
hearing/vestibular/ear
hematopoietic competition - disadvantage
hematopoietic system
homeostasis/metabolism
IgA response to 2nd OVA/Alum Challenge (day 7) - decreased
IgA response to 2nd OVA/Alum Challenge (day 7) - increased
IgE response to a Cysteine Protease (Papain) - decreased
IgE response to a Cysteine Protease (Papain) - increased
IgG1 response to a Cysteine Protease (Papain) - decreased
IgG1 response to a Cysteine Protease (Papain) - increased
immune system
impaired response to dsDNA- type I IFN production by macrophages
inflammatory bowel disease phenotype
influenza proliferation in macrophages - decreased
influenza proliferation in macrophages - increased
influenza resistance
iron deficiency
iron excess
LCMV clone 13 resistance
lethality-embryonic/perinatal
lethality-postnatal
life span-post-weaning/aging
limbs/digits/tail phenotype
liver/biliary system
LPS Cachexia: Body Weight (day 0) - decreased
LPS Cachexia: Body Weight (day 0) - increased
LPS Cachexia: Body Weight (day 0, z-score) - decreased
LPS Cachexia: Body Weight (day 0, z-score) - increased
LPS Cachexia: Body Weight (day 1) - decreased
LPS Cachexia: Body Weight (day 1) - increased
LPS Cachexia: Body Weight (day 14) - decreased
LPS Cachexia: Body Weight (day 14) - increased
LPS Cachexia: Body Weight (day 2) - decreased
LPS Cachexia: Body Weight (day 2) - increased
LPS Cachexia: Body Weight Change (day 1, g) - decreased
LPS Cachexia: Body Weight Change (day 1, g) - increased
LPS Cachexia: Body Weight Change (day 1, ratio) - decreased
LPS Cachexia: Body Weight Change (day 1, ratio) - increased
LPS Cachexia: Body Weight Change (day 14, g) - decreased
LPS Cachexia: Body Weight Change (day 14, g) - increased
LPS Cachexia: Body Weight Change (day 14, ratio) - decreased
LPS Cachexia: Body Weight Change (day 14, ratio) - increased
LPS Cachexia: Body Weight Change (day 2, g) - decreased
LPS Cachexia: Body Weight Change (day 2, g) - increased
LPS Cachexia: Body Weight Change (day 2, ratio) - decreased
LPS Cachexia: Body Weight Change (day 2, ratio) - increased
LPS Hypersensitivity - decreased
LPS Hypersensitivity - increased
LPS-induced Necroptosis - decreased
LPS-induced Necroptosis - increased
Macrophage necroptosis: high
Macrophage necroptosis: low
MC38 tumor body weight change (%) - decreased
MC38 tumor body weight change (%) - increased
MC38 tumor body weight change (%, female) - decreased
MC38 tumor body weight change (%, female) - increased
MC38 tumor body weight change (%, male) - decreased
MC38 tumor body weight change (%, male) - increased
MC38 tumor body weight change (g) - decreased
MC38 tumor body weight change (g) - increased
MC38 tumor body weight change (g, female) - decreased
MC38 tumor body weight change (g, female) - increased
MC38 tumor body weight change (g, male) - decreased
MC38 tumor body weight change (g, male) - increased
MC38 tumor volume (day 22) - decreased
MC38 tumor volume (day 22) - increased
MC38 tumor volume (day 22, early sac sick or found dead, IM injection, dermatitis, trimmed) - decreased
MC38 tumor volume (day 22, early sac sick or found dead, IM injection, dermatitis, trimmed) - increased
MCMV proliferation in macrophages - decreased
MCMV proliferation in macrophages - increased
MCMV resistance
MCMV susceptibility
MTT dsDNA PECs - decreased
MTT dsDNA PECs - increased
MTT Value of PECs - decreased
MTT Value of PECs - increased
muscle
NALP3 inflammasome signaling defect
nervous system
NK cell response - decreased
NK killing - decreased
NK killing - increased
Nlrc4 inflammasome: high response
Nlrc4 inflammasome: low response
NLRP3 inflammasome: high response
NLRP3 inflammasome: low response
no phenotypic analysis
normal phenotype
other phenotype
OVA-specific IgE - decreased
OVA-specific IgE - increased
OVA-specific IgE after 2nd OVA/Alum - decreased
OVA-specific IgE after 2nd OVA/Alum - increased
Peritoneal exudates B1a cell % - decreased
Peritoneal exudates B1a cell % - increased
Peritoneal exudates B1a cell numbers - decreased
Peritoneal exudates B1a cell numbers - increased
Peritoneal exudates B1b cell % - decreased
Peritoneal exudates B1b cell % - increased
Peritoneal exudates B1b cell numbers - decreased
Peritoneal exudates B1b cell numbers - increased
Peritoneal exudates macrophage % - decreased
Peritoneal exudates macrophage % - increased
Peritoneal exudates macrophage numbers - decreased
Peritoneal exudates macrophage numbers - increased
Peritoneal exudates neutrophil % - decreased
Peritoneal exudates neutrophil % - increased
Peritoneal exudates neutrophil numbers - decreased
Peritoneal exudates neutrophil numbers - increased
phagocytosis in PECs - decreased
phagocytosis in PECs - increased
pigmentation
polycythemia
post-MCMV FACS B cells - decreased
post-MCMV FACS B cells - increased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B:T cells - increased
post-MCMV FACS B1 cells - decreased
post-MCMV FACS B1 cells - increased
post-MCMV FACS B1a cells - decreased
post-MCMV FACS B1a cells - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1a cells in B1 cells - increased
post-MCMV FACS B1b cells - decreased
post-MCMV FACS B1b cells - increased
post-MCMV FACS B1b cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
post-MCMV FACS B2 cells - decreased
post-MCMV FACS B2 cells - increased
post-MCMV FACS B220 MFI - decreased
post-MCMV FACS B220 MFI - increased
post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - increased
post-MCMV FACS CD11c+ DCs - decreased
post-MCMV FACS CD11c+ DCs - increased
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD4+ T cells - increased
post-MCMV FACS CD4+ T cells in CD3+ T cells - decreased
post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
post-MCMV FACS CD44+ CD4 MFI - decreased
post-MCMV FACS CD44+ CD4 MFI - increased
post-MCMV FACS CD44+ CD4 T cells - decreased
post-MCMV FACS CD44+ CD4 T cells - increased
post-MCMV FACS CD44+ CD8 MFI - decreased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD44+ CD8 T cells - decreased
post-MCMV FACS CD44+ CD8 T cells - increased
post-MCMV FACS CD44+ T cells - decreased
post-MCMV FACS CD44+ T cells - increased
post-MCMV FACS CD44+ T MFI - decreased
post-MCMV FACS CD44+ T MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells - increased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - decreased
post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - increased
post-MCMV FACS central memory CD4 T cells in CD4 T cells - decreased
post-MCMV FACS central memory CD4 T cells in CD4 T cells - increased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - decreased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased
post-MCMV FACS effector memory CD4 T cells in CD4 T cells - increased
post-MCMV FACS effector memory CD8 T cells in CD8 T cells - decreased
post-MCMV FACS effector memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS effector T cells - decreased
post-MCMV FACS effector T cells - increased
post-MCMV FACS IgD MFI - decreased
post-MCMV FACS IgD MFI - increased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgD+ B cell percentage - increased
post-MCMV FACS IgM MFI - decreased
post-MCMV FACS IgM MFI - increased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS IgM+ B cells - increased
post-MCMV FACS macrophages - decreased
post-MCMV FACS macrophages - increased
post-MCMV FACS memory T cells - decreased
post-MCMV FACS memory T cells - increased
post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS naive CD4 T cells in CD4 T cells - increased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - increased
post-MCMV FACS naive T cells - decreased
post-MCMV FACS naive T cells - increased
post-MCMV FACS neutrophils - decreased
post-MCMV FACS neutrophils - increased
post-MCMV FACS NK cells - decreased
post-MCMV FACS NK cells - increased
post-MCMV FACS NK T cells - decreased
post-MCMV FACS NK T cells - increased
post-MCMV FACS NKT cells (tet) - decreased
post-MCMV FACS NKT cells (tet) - increased
post-MCMV FACS pDCs - decreased
post-MCMV FACS pDCs - increased
post-MCMV FACS T cells - decreased
post-MCMV FACS T cells - increased
ratio of OVA-specific IgE over the total IgE - decreased
ratio of OVA-specific IgE over the total IgE - increased
renal/urinary system
reproductive system
resistance to B10-F16 melanoma - decreased
resistance to B10-F16 melanoma - increased
respiratory system
response to injected CpG DNA - decreased
RVFV proliferation in macrophages - decreased
RVFV proliferation in macrophages - increased
RVFV susceptibility
secretory SlgA after 2nd OVA/Alum Challenge (day 7) - decreased
secretory SlgA after 2nd OVA/Alum Challenge (day 7) - increased
skeleton phenotype
skin/coat/nails
taste/olfaction
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-dependent humoral response defect- increased antibody response to OVA+ alum immunization
T-dependent humoral response defect- increased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to MALP2
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to poly I:C
TLR signaling defect: hypersensitivity to poly I:C + IFNg
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: hyposensitivity to CpG + IFNg
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to MALP2
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: hyposensitivity to poly I:C + IFNg
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
total IgE after 2nd OVA/Alum - decreased
total IgE after 2nd OVA/Alum - increased
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
total IgE level - decreased
total IgE level - increased
touch/vibrissae
tumorigenesis
vision/eye
and
validated
validated (with ENU)
validated (without ENU)
excluded
untested (pending)
untested (not pending)
validated
validated (with ENU)
validated (without ENU)
excluded
untested
Base Change
A
C
G
T
⇒
A
C
G
T
Type of Mutation
makesense
missense
nonsense
start codon destroyed
start gained
synonymous
splice acceptor site
splice donor site
critical splice acceptor site
critical splice donor site
splice site
large deletion
large insertion
rearrangement
small deletion
small insertion
exon
frame shift
intragenic
intron
utr 3 prime
utr 5 prime
unclassified
Exon Dist
Predicted Effect
unknown
probably benign
probably null
possibly damaging
probably damaging
noncoding transcript
silent
not run
no transcript
PPH Score
1
Ltbr
0.118
Armitage
6
125306571-125313885 bp (-)
125312794
Autosomal Recessive (1;5)
Autosomal Semidominant (1;2)
0.800
2022-04-15
External Program
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ A
missense
probably damaging
0.973
2
Kbtbd2
0.000
teeny
6
56777524-56797813 bp (-)
56780389
Unknown (1;0)
Autosomal Recessive (7;54), Autosomal Semidominant (1;7)
0.978
2022-04-12
External Program
30 min GTT hyperglycemic
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, female) - decreased
Body Weight (Z-score, male) - decreased
FACS CD44+ CD8 T cells - increased
growth/size
liver/biliary system
G ⇒ A
nonsense
probably null
3
Entpd5
0.000
eatsy
12
84373857-84409029 bp (-)
84382295
Autosomal Recessive (11;50)
Autosomal Semidominant (2;9)
0.962
2022-04-12
External Program
125-03 Response - increased
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, female) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1 cells - increased
FACS CD44+ CD8 MFI - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
growth/size
TLR signaling defect: hypersensitivity to PAM3CSK4
G ⇒ A
nonsense
probably null
4
Arnt2
1.000
Arnold2
7
84246278-84410176 bp (-)
84347530
Autosomal Dominant (3;4)
Autosomal Semidominant (4;22)
0.977
2022-04-12
External Program
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Body Weight (Z-score, female) - increased
Body Weight (Z-score, male) - increased
DSS: sensitive day 10
growth/size
NALP3 inflammasome signaling defect
NK cell response - decreased
NK killing - decreased
NLRP3 inflammasome: high response
G ⇒ A
missense
probably damaging
1.000
5
Mbtps1
1.000
Muskrat
8
119508156-119558735 bp (-)
119538137
Autosomal Dominant (2;2)
Autosomal Recessive (2;9)
failed initial filter
2020-07-29
External Program
pigmentation
skin/coat/nails
G ⇒ A
missense
probably damaging
1.000
6
Inpp5d
0.875
Orange
1
87620312-87720507 bp (+)
87697546
Autosomal Dominant (3;10)
Autosomal Semidominant (4;19)
0.885
2020-06-05
Thomas Gallagher
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
G ⇒ A
critical splice donor site
1 bp
probably null
7
Cd4
0.000
craw
6
124864692-124888221 bp (-)
124867746
Unknown (7;0)
no linkage results
2019-11-12
Bruce Beutler
FACS CD4+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ A
nonsense
probably null
8
Klhl6
0.076
cerulean
16
19946496-19983037 bp (-)
19957218
Autosomal Recessive (8;130)
Autosomal Semidominant (6;41)
0.935
2019-10-25
Bruce Beutler
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
total IgE level - increased
G ⇒ A
nonsense
probably null
9
Myo15
0.000
Typhoon
11
60469339-60528369 bp (+)
60487425
Autosomal Dominant (1;7)
Autosomal Recessive (1;5)
0.143
2019-10-23
Anne Murray
behavior/neurological
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
G ⇒ A
critical splice donor site
probably null
10
Kitl
0.320
Gregory
10
100015630-100100416 bp (+)
100076906
Unknown (2;0)
Autosomal Dominant (7;22)
failed initial filter
2019-10-23
Anne Murray
pigmentation
skin/coat/nails
G ⇒ A
critical splice donor site
probably null
11
Tnfsf13b
0.076
Frozen
8
10006467-10039072 bp (+)
10031661
Autosomal Recessive (5;42)
Autosomal Semidominant (8;93)
0.823
2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD11c+ DCs - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS T cells - increased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ A
splice site
5 bp
probably null
12
Ciita
0.097
sisal
16
10480059-10528418 bp (+)
10513288
Autosomal Recessive (9;49)
Autosomal Semidominant (1;4)
0.867
2019-09-04
Anne Murray
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
G ⇒ A
critical splice donor site
1 bp
probably null
13
Myo6
0.000
torticollis
9
80165031-80311729 bp (+)
80288217
Autosomal Recessive (4;15)
0.190
2019-09-04
Anne Murray
behavior/neurological
dsDNA induced type I IFN production - increased
hearing/vestibular/ear
impaired response to dsDNA- type I IFN production by macrophages
G ⇒ A
critical splice donor site
1 bp
probably null
14
Hr
0.000
yuanxiao
14
70552212-70573548 bp (+)
70571448
Autosomal Recessive (1;4)
0.821
2019-09-04
Diantha La Vine
Body Weight (DSS Male) - decreased
Body Weight (DSS, z-score, male) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - increased
FACS B2 cells - decreased
FACS B220 MFI - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS T cells - decreased
skin/coat/nails
G ⇒ A
missense
probably damaging
1.000
15
Gk5
0.000
tangyuan
9
96119362-96184608 bp (+)
96150797
Autosomal Recessive (6;25)
0.965
2019-09-04
Anne Murray
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
skin/coat/nails
G ⇒ A
critical splice donor site
1 bp
probably null
16
Itgb2
0.306
newhome
10
77530252-77565708 bp (+)
77559681
Autosomal Recessive (2;21)
0.455
2019-09-04
Diantha La Vine
dsDNA induced type I IFN production - increased
impaired response to dsDNA- type I IFN production by macrophages
G ⇒ A
missense
probably benign
0.001
17
Slx4
1.000
slim
16
3979105-4003770 bp (-)
3990910
Autosomal Recessive (4;22)
0.452
2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (DSS) - decreased
growth/size
G ⇒ A
nonsense
probably null
18
Ighe
0.048
Allegra
12
113271174-113273248 bp (-)
113271374
Autosomal Semidominant (2;9)
0.168
2019-09-04
Anne Murray
ratio of OVA-specific IgE over the total IgE - increased
total IgE level - decreased
G ⇒ A
nonsense
probably null
19
Naip5
0.074
inwood3
13
100211739-100246323 bp (-)
100221903
Autosomal Recessive (2;9)
0.785
2019-09-04
Anne Murray
Nlrc4 inflammasome: low response
G ⇒ A
nonsense
probably null
20
Dock8
0.072
snowdrop
19
24999529-25202432 bp (+)
25184941
Autosomal Recessive (7;30)
Autosomal Semidominant (1;4)
0.919
2019-09-04
Anne Murray
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ A
critical splice donor site
probably null
21
Clock
0.753
uhr
5
76209868-76304792 bp (-)
76229554
Autosomal Recessive (1;2)
failed initial filter
2019-09-04
Katherine Timer
Body Weight - increased
G ⇒ A
nonsense
probably null
22
Rorc
0.880
macadamias2
3
94372794-94398276 bp (+)
94387193
Autosomal Recessive (18;118)
0.966
2019-09-04
Diantha La Vine
FACS B:T cells - increased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - increased
FACS macrophages - increased
FACS naive CD8 T cells in CD8 T cells - decreased
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ A
missense
probably damaging
1.000
23
Tg
0.115
ito2
15
66670753-66850721 bp (+)
66671396
Unknown (1;0)
Autosomal Recessive (18;102), Autosomal Semidominant (1;5)
0.963
2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, female) - decreased
DSS: sensitive day 10
FACS B cells - decreased
FACS B1a cells - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
G ⇒ A
missense
probably damaging
0.999
24
Fgfr4
0.000
Modest
13
55152640-55168759 bp (+)
55166251
Autosomal Semidominant (6;31)
0.390
2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (DSS Male) - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Z-score) - decreased
FACS B1a cells in B1 cells - decreased
G ⇒ A
missense
probably damaging
1.000
25
Lepr
0.000
giant
4
101717404-101815352 bp (+)
101765152
Autosomal Recessive (15;115)
Autosomal Semidominant (1;3)
0.970
2019-09-04
Diantha La Vine
30 min GTT hyperglycemic
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Body Weight (Z-score, female) - increased
Body Weight (Z-score, male) - increased
FACS macrophages - increased
growth/size
NK cell response - decreased
NK killing - decreased
OVA-specific IgE - increased
TLR signaling defect: hyposensitivity to CpG + IFNg
total IgE level - increased
G ⇒ A
critical splice donor site
probably null
26
Impdh1
0.244
steve
6
29200434-29216364 bp (-)
29204632
Autosomal Recessive (3;25)
failed initial filter
2019-09-04
Anne Murray
vision/eye
G ⇒ A
nonsense
probably null
27
Fbxl3
0.237
delargo
14
103080239-103099566 bp (-)
103089418
Autosomal Recessive (4;46)
Autosomal Semidominant (1;14)
no linkage result
2019-09-04
Anne Murray
G ⇒ A
missense
probably damaging
1.000
28
Itgb2
0.306
nibbler
10
77530252-77565708 bp (+)
77561216
Autosomal Recessive (25;179)
0.971
2019-09-04
Diantha La Vine
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1b cells - increased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - decreased
FACS NK1.1+ T cells - increased
NK cell response - decreased
NK killing - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - increased
G ⇒ A
critical splice donor site
probably null
29
Hps5
0.094
smoky
7
46760466-46796064 bp (-)
46769351
Autosomal Recessive (1;2)
failed initial filter
2019-09-04
Diantha La Vine
pigmentation
skin/coat/nails
G ⇒ A
nonsense
probably null
30
Prkcq
0.000
celina2
2
11172108-11301222 bp (+)
11226986
Unknown (1;0)
Autosomal Recessive (1;4)
0.611
2019-09-04
Anne Murray
Body Weight (Z-score, female) - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
G ⇒ A
critical splice donor site
probably null
31
Slc6a6
0.000
durango
6
91684053-91759066 bp (+)
91723471
Autosomal Recessive (5;53)
Autosomal Semidominant (2;8)
0.961
2019-09-04
Anne Murray
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
vision/eye
G ⇒ A
missense
probably damaging
1.000
32
Prkdc
0.949
screamer6
16
15637866-15842235 bp (+)
15759605
Autosomal Recessive (2;11)
0.957
2019-09-04
Diantha La Vine
FACS effector memory CD4 T cells in CD4 T cells - increased
T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ A
missense
probably damaging
1.000
33
Aicda
0.000
creeper
6
122553801-122564180 bp (+)
122561867
Autosomal Dominant (1;4)
Autosomal Recessive (3;21), Autosomal Semidominant (2;16)
0.930
2019-09-04
Anne Murray
OVA-specific IgE - decreased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
G ⇒ A
missense
probably damaging
0.999
34
Vav1
0.358
Plain_sight
17
57279100-57328031 bp (+)
57297122
Autosomal Semidominant (1;5)
0.716
2019-09-04
Diantha La Vine
FACS B1 cells - decreased
G ⇒ A
missense
probably damaging
1.000
35
Slc13a5
0.000
punk2
11
72241989-72267222 bp (-)
72253391
Autosomal Recessive (20;109)
0.447
2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (BP, z-score, female) - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, female) - decreased
Bone: Femur Length (AI, residual, female) - decreased
Bone: Pelvis Length (AI, residual, female) - decreased
G ⇒ A
missense
possibly damaging
0.655
36
Eml1
0.246
bubble
12
108370957-108539617 bp (+)
108513071
Autosomal Recessive (1;8)
failed initial filter
2019-09-04
Anne Murray
craniofacial
nervous system
G ⇒ A
critical splice donor site
probably null
37
Card11
0.000
Sharp
5
140872990-141000582 bp (-)
140876425
Autosomal Semidominant (2;10)
0.726
2019-09-04
Diantha La Vine
FACS CD4+ T cells - increased
FACS T cells - increased
G ⇒ A
missense
possibly damaging
0.934
38
Il4ra
0.076
Haile
7
125552120-125579474 bp (+)
125574717
Autosomal Dominant (1;4)
0.209
2019-09-04
Anne Murray
total IgE level - decreased
G ⇒ A
critical splice donor site
1 bp
probably null
39
Jak3
0.753
potentes
8
71676296-71690575 bp (+)
71686058
Autosomal Recessive (2;8)
0.932
2019-09-04
Anne Murray
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
G ⇒ A
missense
probably damaging
0.985
40
Nfkb1
0.000
Wheelo
3
135584655-135691547 bp (-)
135615349
Autosomal Semidominant (1;4)
0.660
2019-09-04
Anne Murray
total IgE level - decreased
G ⇒ A
missense
possibly damaging
0.806
41
Nos3
0.000
Peter
5
24364810-24384474 bp (+)
24377855
Autosomal Semidominant (1;5)
0.465
2019-09-04
Anne Murray
DSS: sensitive day 7
G ⇒ A
missense
probably damaging
0.994
42
Pappa
0.000
maennelein
4
65124174-65357509 bp (+)
65314796
Unknown (2;0)
Autosomal Dominant (1;1), Autosomal Recessive (7;46)
0.875
2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, female) - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
G ⇒ A
splice site
5 bp
probably null
43
Pappa2
0.000
Gulliver
1
158711727-158980490 bp (-)
158857136
Autosomal Dominant (1;4)
0.740
2019-09-04
Anne Murray
Body Weight - decreased
G ⇒ A
missense
probably null
1.000
44
Tg
0.115
samarai
15
66670753-66850721 bp (+)
66758006
Autosomal Recessive (15;67)
0.960
2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Z-score) - decreased
FACS B1a cells - increased
FACS B2 cells - decreased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
total IgE level - increased
G ⇒ A
critical splice donor site
1 bp
probably null
45
Vav1
0.358
Delayed
17
57279100-57328031 bp (+)
57296552
Autosomal Dominant (11;76)
Autosomal Semidominant (3;13)
0.959
2019-09-04
Anne Murray
FACS B1 cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
G ⇒ A
missense
probably damaging
0.998
46
Lmbr1l
0.000
morula
15
98903917-98918231 bp (-)
98904791
Autosomal Recessive (1;4)
0.972
2019-09-04
Anne Murray
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B cells - increased
FACS B:T cells - increased
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B220 MFI - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - decreased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - increased
FACS IgM MFI - increased
FACS IgM+ B cells - increased
FACS macrophages - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - decreased
FACS NK1.1+ T cells - decreased
FACS T cells - decreased
MCMV susceptibility
NK cell response - decreased
NK killing - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ A
missense
probably damaging
1.000
47
Rel
0.000
giza
11
23736847-23770970 bp (-)
23757010
Autosomal Recessive (1;4)
0.827
2019-09-04
Anne Murray
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ A
missense
probably damaging
0.995
48
Rag1
0.531
dysfunctional
2
101638282-101649501 bp (-)
101644284
Autosomal Recessive (3;14)
Autosomal Semidominant (1;5)
0.906
2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
G ⇒ A
missense
probably damaging
1.000
49
Prkcb
0.000
Baghdad
7
122288751-122634402 bp (+)
122627663
Autosomal Semidominant (1;6)
0.650
2019-09-04
Anne Murray
FACS B1 cells - decreased
G ⇒ A
missense
probably benign
0.070
50
Cd22
0.000
well
7
30865402-30880342 bp (-)
30877787
Unknown
no linkage results
2019-07-29
Diantha La Vine
FACS B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ A
nonsense
probably null
51
Ptprc
0.000
guotie
1
138062861-138175708 bp (-)
138068401
Unknown (1;0)
Autosomal Recessive (55;517), Autosomal Semidominant (9;57)
0.975
2019-06-06
Diantha La Vine
30 min GTT hypoglycemic
30 min GTT hypoglycemic (male)
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, female) - decreased
Body Weight (Z-score, male) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK1.1+ T cells - decreased
FACS T cells - decreased
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1 cells - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
post-MCMV FACS B220 MFI - decreased
post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - increased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD44+ T MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - decreased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS IgD MFI - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM MFI - increased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS macrophages - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
post-MCMV FACS neutrophils - increased
post-MCMV FACS NK T cells - decreased
post-MCMV FACS pDCs - decreased
post-MCMV FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - decreased
G ⇒ A
nonsense
probably null
52
Msh6
1.000
medea
17
87975050-87990883 bp (+)
87980223
Autosomal Recessive (1;20)
0.556
2019-05-22
Diantha La Vine
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
total IgE level - decreased
G ⇒ A
nonsense
probably null
53
Dock2
0.000
dew
11
34226815-34783892 bp (-)
34248636
Unknown (1;0)
no linkage results
2019-05-21
Diantha La Vine
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ A
nonsense
probably null
54
Card11
0.000
may
5
140872990-141000582 bp (-)
140876495
Unknown
no linkage results
2019-04-16
Diantha La Vine
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ A
nonsense
probably null
55
Lepr
0.000
well-upholstered
4
101717404-101815352 bp (+)
101772959
Unknown
no linkage results
2019-03-30
Diantha La Vine
adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
G ⇒ A
synonymous
probably benign
56
Fnip1
0.655
hamel
11
54438199-54518235 bp (+)
54480685
Unknown
no linkage results
2019-02-07
Diantha La Vine
hematopoietic competition - disadvantage
hematopoietic system
homeostasis/metabolism
muscle
G ⇒ A
critical splice donor site
1 bp
probably benign
57
Tlr7
0.168
rsq1
X
167304929-167330558 bp (-)
167308286
Unknown (1;0)
no linkage results
2018-12-14
Diantha La Vine
immune system
TLR signaling defect: TNF production by macrophages
G ⇒ A
missense
probably damaging
1.000
58
Atp11c
0.316
emptyhive
X
60223290-60592698 bp (-)
60269987
Unknown
no linkage results
2018-10-25
Diantha La Vine
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
reproductive system
G ⇒ A
nonsense
probably null
59
Hr
0.000
mister_clean
14
70552212-70573548 bp (+)
70560064
Unknown
no linkage results
2018-03-02
Diantha La Vine
Body Weight (DSS Male) - decreased
Body Weight (DSS, z-score, male) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - increased
FACS B2 cells - decreased
FACS B220 MFI - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS T cells - decreased
skin/coat/nails
G ⇒ A
critical splice donor site
1 bp
probably benign
60
Oca2
0.183
quicksilver
7
56239760-56536518 bp (+)
56324661
Unknown
no linkage results
2018-01-12
Diantha La Vine
pigmentation
skin/coat/nails
G ⇒ A
missense
probably benign
0.190
61
Muc2
0.106
Winnie
7
141690340-141754693 bp (+)
141699460
Unknown
no linkage results
2017-09-13
Diantha La Vine
DSS: sensitive day 7
immune system
G ⇒ A
missense
probably damaging
1.000
62
Map3k8
0.000
gnostic_gospel
18
4331327-4353015 bp (-)
4333965
Unknown (1;0)
Autosomal Dominant (1;3), Autosomal Recessive (5;24), Autosomal Semidominant (2;7)
0.862
2017-09-11
Diantha La Vine
FACS B1 cells - increased
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
G ⇒ A
missense
probably damaging
1.000
63
Map3k14
0.688
lucky
11
103219762-103267472 bp (-)
103249558
Unknown (1;0)
no linkage results
2017-04-06
Katherine Timer
FACS B cells - decreased
hematopoietic system
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ A
intron
probably benign
64
Cd14
0.122
heedless
18
36725074-36726736 bp (-)
36725551
Unknown (1;0)
no linkage results
2017-03-27
Katherine Timer
immune system
TLR signaling defect: TNF production by macrophages
G ⇒ A
missense
probably benign
0.007
65
Tlr4
0.000
Lps4
4
66827584-66930284 bp (+)
66841142
Unknown (1;0)
no linkage results
2016-12-09
Katherine Timer
immune system
TLR signaling defect: TNF production by macrophages
G ⇒ A
missense
probably damaging
1.000
66
Ticam1
0.000
Pangu
17
56269319-56276786 bp (-)
56276693
Unknown (2;0)
no linkage results
2016-10-13
Anne Murray
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
G ⇒ A
critical splice donor site
probably benign
67
Tmprss6
0.070
zorro
15
78439667-78468634 bp (-)
78464552
Unknown
no linkage results
2016-05-13
Peter Jurek
embryogenesis
growth/size
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
G ⇒ A
intron
probably benign
68
Tgm3
0.000
tortellini
2
130012349-130050399 bp (+)
130024585
Unknown (1;0)
no linkage results
2016-05-13
Stephen Lyon
immune system
RVFV susceptibility
skin/coat/nails
G ⇒ A
critical splice donor site
1 bp
probably benign
69
Tlr9
0.141
Cpg6
9
106222598-106226883 bp (+)
106226593
Unknown (2;0)
no linkage results
2016-05-13
Peter Jurek
immune system
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
G ⇒ A
missense
probably damaging
1.000
70
Bicc1
1.000
artemis
10
70922832-71159700 bp (-)
71027954
Unknown
no linkage results
2016-05-13
Stephen Lyon
homeostasis/metabolism
life span-post-weaning/aging
renal/urinary system
G ⇒ A
missense
probably damaging
0.994
[records 1 to 70 of 70]