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Phenotypic Mutations
66
mutations affecting
58
genes are currently displayed.
Mutations Mapped and Identified Based on Phenotype
[records 1 to 66 of 66]
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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
Pi4ka
1.000
Pia
16
17280351-17406314 bp (-)
17281044
Autosomal Recessive (3;18)
Autosomal Semidominant (3;12)
0.381
2022-04-12
External Program
FACS CD44+ CD4 T cells - increased
FACS CD44+ T cells - increased
FACS central 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
MTT Value of PECs - decreased
C ⇒ T
missense
probably damaging
0.997
2
Lrba
0.000
oscar
3
86224680-86782692 bp (+)
86350304
Autosomal Recessive (2;15)
0.904
2022-04-12
External Program
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1b cells in B1 cells - increased
FACS B220 MFI - increased
FACS CD11c+ DCs - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
C ⇒ T
nonsense
probably null
3
Ikzf1
0.000
Herrscher
11
11685003-11772926 bp (+)
11768961
Autosomal Dominant (20;149)
0.977
2022-04-12
External Program
Body Weight (BP, z-score, male) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 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 - 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 - increased
FACS NK cells - decreased
FACS NK1.1+ T cells - increased
FACS T cells - increased
C ⇒ T
nonsense
probably null
4
Alms1
0.000
ares
6
85587531-85702753 bp (+)
85621275
Autosomal Recessive (2;10)
Autosomal Semidominant (2;8)
0.973
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
growth/size
C ⇒ T
nonsense
probably null
5
Alms1
0.000
fatty
6
85587531-85702753 bp (+)
85627934
Autosomal Dominant (1;1)
Autosomal Recessive (19;153), Autosomal Semidominant (1;1)
0.978
2021-11-17
Diantha La Vine
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
growth/size
NK cell response - decreased
NK killing - decreased
C ⇒ T
nonsense
probably null
6
Alms1
0.000
ares2
6
85587531-85702753 bp (+)
85677990
Autosomal Recessive (7;58)
Autosomal Semidominant (2;9)
0.431
2021-11-16
Diantha La Vine
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
resistance to B10-F16 melanoma - decreased
C ⇒ T
nonsense
probably null
7
Adamts20
0.144
nidoking
15
94270163-94465418 bp (-)
94403445
Autosomal Recessive (1;12)
0.580
2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ T
missense
probably damaging
0.999
8
Adamts20
0.144
buckeye
15
94270163-94465418 bp (-)
94341087
Unknown (1;0)
failed initial filter
2021-10-19
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ T
missense
probably damaging
0.999
9
Prkce
0.000
Pinnacles
17
86167785-86657919 bp (+)
86476851
Autosomal Semidominant (1;5)
0.033
2019-10-23
Anne Murray
FACS NK cells - decreased
C ⇒ T
missense
probably damaging
0.997
10
Zbtb1
0.767
Old_friend
12
76370266-76396950 bp (+)
76385891
Autosomal Recessive (1;6)
Autosomal Semidominant (2;10)
0.090
2019-10-23
Anne Murray
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS NK1.1+ T cells - increased
C ⇒ T
missense
probably damaging
0.965
11
Jak3
0.753
citron
8
71676296-71690575 bp (+)
71686976
Autosomal Recessive (2;10)
Autosomal Semidominant (1;5)
0.781
2019-09-04
Diantha La Vine
cellular phenotype
FACS B:T cells - increased
FACS B1b cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
C ⇒ T
splice site
4 bp
probably benign
12
Tub
0.000
troy
7
108950338-109034460 bp (+)
109020954
Autosomal Recessive (7;35)
0.815
2019-09-04
Bruce Beutler
adipose tissue
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (DSS, z-score) - increased
Body Weight (DSS, z-score, male) - increased
Body Weight (Z-score) - increased
growth/size
C ⇒ T
nonsense
probably null
13
Lck
0.000
lockdown
4
129548344-129573641 bp (-)
129558127
Autosomal Recessive (12;64)
Autosomal Semidominant (2;8)
0.945
2019-09-04
Katherine Timer
DSS: resistant day 10
DSS: sensitive day 7
FACS B:T cells - 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+ T MFI - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD4+ T cells in CD3+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
post-MCMV FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
C ⇒ T
missense
probably damaging
1.000
14
Nos3
0.000
paul
5
24364810-24384474 bp (+)
24372704
Autosomal Recessive (2;8)
0.315
2019-09-04
Diantha La Vine
DSS: sensitive day 7
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
C ⇒ T
missense
probably damaging
1.000
15
Rims4
0.182
diminutive
2
163859751-163918683 bp (-)
163864865
Autosomal Recessive (4;25)
0.794
2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, male) - decreased
growth/size
C ⇒ T
critical splice donor site
probably null
16
Cd22
0.000
gansu
7
30865402-30880342 bp (-)
30870105
Autosomal Recessive (7;42)
0.930
2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B2 cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
C ⇒ T
missense
probably damaging
1.000
17
Tg
0.115
ito
15
66670753-66850721 bp (+)
66766162
Unknown (1;0)
Autosomal Recessive (7;39)
0.963
2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, female) - decreased
OVA-specific IgE - increased
total IgE level - increased
C ⇒ T
nonsense
probably null
18
Yap1
1.000
Puddel_hunde
9
7931999-8004596 bp (-)
8004284
Autosomal Semidominant (1;5)
0.395
2019-09-04
Anne Murray
DSS: sensitive day 10
C ⇒ T
missense
probably damaging
1.000
19
Nlrp3
0.104
Park7
11
59541568-59566956 bp (+)
59548010
Autosomal Semidominant (2;12)
0.901
2019-09-04
Diantha La Vine
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
OVA-specific IgE - increased
C ⇒ T
nonsense
probably null
20
Col6a2
0.000
piddling
10
76595762-76623630 bp (-)
76608106
Autosomal Recessive (4;24)
0.320
2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, male) - decreased
growth/size
C ⇒ T
critical splice donor site
probably null
21
Pcdh15
0.000
sphere
10
73099342-74649737 bp (+)
74624284
Autosomal Recessive (1;2)
failed initial filter
2019-09-04
Diantha La Vine
behavior/neurological
hearing/vestibular/ear
C ⇒ T
missense
probably damaging
1.000
22
Sppl2a
0.074
abra2
2
126890391-126933235 bp (-)
126920313
Autosomal Recessive (5;44)
0.941
2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
C ⇒ T
splice site
probably null
23
Pnp
0.103
Porch
14
50931082-50965237 bp (+)
50950923
Autosomal Recessive (1;5)
0.510
2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
C ⇒ T
nonsense
probably null
24
Mpz
0.078
taz
1
171150711-171161130 bp (+)
171158810
Autosomal Recessive (1;4)
0.634
2019-09-04
Anne Murray
behavior/neurological
C ⇒ T
missense
probably damaging
1.000
25
Ctss
0.160
clip
3
95526786-95556403 bp (+)
95545384
Autosomal Recessive (2;11)
0.251
2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: TNF production by macrophages
C ⇒ T
nonsense
probably null
26
Ryr2
1.000
Arruda
13
11553102-12106945 bp (-)
11643895
Unknown
no linkage result
2019-09-04
Anne Murray
C ⇒ T
missense
probably damaging
0.999
27
Pik3r1
0.000
Rocket
13
101680563-101768217 bp (-)
101689444
Autosomal Dominant (3;19)
0.641
2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD4+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
IgE response to a Cysteine Protease (Papain) - increased
C ⇒ T
missense
probably damaging
1.000
28
Smcr8
0.000
patriot3
11
60777524-60788287 bp (+)
60779870
Autosomal Recessive (4;20)
0.956
2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B220 MFI - increased
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 CD8+ 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 naive CD8 T cells in CD8 T cells - decreased
TLR signaling defect: hypersensitivity to CpG + IFNg
C ⇒ T
nonsense
probably null
29
Trpc1
0.139
luxus
9
95705082-95750375 bp (-)
95721132
Autosomal Recessive (7;27)
Autosomal Semidominant (1;4)
0.504
2019-09-04
Diantha La Vine
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (DSS, z-score, male) - increased
Body Weight (Male) - increased
Body Weight (Z-score, male) - increased
FACS B cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
C ⇒ T
critical splice donor site
probably null
30
Tbx21
0.227
plateau
11
97098071-97115331 bp (-)
97101478
Autosomal Dominant (1;6)
Autosomal Recessive (1;6)
0.267
2019-09-04
Anne Murray
FACS CD8+ T cells in CD3+ T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
C ⇒ T
critical splice donor site
probably null
31
Tnfrsf13c
0.193
Tannin
15
82221743-82224369 bp (-)
82224207
Autosomal Dominant (2;8)
0.510
2019-09-04
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
C ⇒ T
missense
probably damaging
0.997
32
Gk5
0.000
homer
9
96119362-96184608 bp (+)
96140656
Autosomal Recessive (10;65)
Autosomal Semidominant (2;8)
0.961
2019-09-04
Anne Murray
Body Weight (BP, z-score, female) - increased
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
C ⇒ T
nonsense
probably null
33
Gk5
0.000
sean
9
96119362-96184608 bp (+)
96176237
Autosomal Recessive (9;82)
Autosomal Semidominant (2;8)
0.973
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
C ⇒ T
nonsense
probably null
34
Ptprc
0.000
fuchsia
1
138062861-138175708 bp (-)
138101041
Autosomal Recessive (17;235)
Autosomal Semidominant (1;17)
0.975
2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
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 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 naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
C ⇒ T
critical splice donor site
probably null
35
Ptpn6
0.516
Vermeil
6
124720707-124738714 bp (-)
124732950
Autosomal Recessive (3;15)
Autosomal Semidominant (6;34)
0.645
2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B1 cells - increased
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
C ⇒ T
missense
probably benign
0.103
36
Rasgrp1
0.217
venutian
2
117279993-117343001 bp (-)
117284929
Autosomal Recessive (18;323)
Autosomal Semidominant (1;11)
0.978
2019-09-04
Diantha La Vine
FACS B:T cells - increased
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+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - 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
FACS NK cells - increased
FACS T cells - decreased
C ⇒ T
nonsense
probably null
37
Nfkb1
0.000
Murgatroyd
3
135584655-135691547 bp (-)
135626710
Autosomal Dominant (1;11)
0.888
2019-09-04
Diantha La Vine
FACS B1 cells - decreased
C ⇒ T
missense
possibly damaging
0.720
38
Atp2b2
0.884
johan
6
113743831-114042613 bp (-)
113773388
Autosomal Recessive (1;4)
0.293
2019-09-04
Anne Murray
Body Weight - decreased
C ⇒ T
missense
probably damaging
1.000
39
Klhl6
0.076
heights
16
19946496-19983037 bp (-)
19957028
Autosomal Recessive (3;13)
Autosomal Semidominant (1;5)
0.567
2019-09-04
Diantha La Vine
FACS CD4+ T cells - increased
FACS IgD MFI - increased
FACS IgD+ B cell percentage - decreased
FACS T cells - increased
C ⇒ T
missense
probably damaging
0.978
40
Lyn
0.000
water
4
3678115-3813122 bp (+)
3748787
Autosomal Dominant (1;4)
Autosomal Recessive (1;5)
0.783
2019-09-04
Anne Murray
FACS B cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
C ⇒ T
missense
possibly damaging
0.930
41
Nfkb1
0.000
Frisbee
3
135584655-135691547 bp (-)
135613943
Autosomal Recessive (1;5)
Autosomal Semidominant (2;9)
0.835
2019-09-04
Anne Murray
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
total IgE level - decreased
C ⇒ T
missense
possibly damaging
0.934
42
Tcf12
1.000
Substandard
9
71842688-72111871 bp (-)
71858840
Autosomal Dominant (5;24)
0.765
2019-09-04
Anne Murray
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ 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 naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
C ⇒ T
missense
probably null
0.539
43
Cd79b
0.100
Jeju
11
106311341-106314762 bp (-)
106312713
Autosomal Semidominant (5;36)
0.919
2019-09-04
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS T cells - increased
C ⇒ T
missense
probably damaging
1.000
44
Dock2
0.000
Launch
11
34226815-34783892 bp (-)
34256562
Autosomal Dominant (1;4)
Autosomal Semidominant (1;5)
0.395
2019-09-04
Diantha La Vine
FACS B:T cells - decreased
FACS CD8+ T cells - increased
C ⇒ T
missense
probably damaging
1.000
45
Prkcb
0.000
Tikrit
7
122288751-122634402 bp (+)
122627693
Autosomal Dominant (1;4)
0.944
2019-09-04
Anne Murray
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
C ⇒ T
missense
probably damaging
0.997
46
Ptprc
0.000
Gentian
1
138062861-138175708 bp (-)
138067885
Autosomal Dominant (4;31)
Autosomal Semidominant (2;8)
0.903
2019-09-04
Diantha La Vine
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD44+ CD8 MFI - increased
FACS naive CD8 T cells in CD8 T cells - decreased
C ⇒ T
critical splice donor site
1 bp
probably null
47
Itgam
0.109
obscured
7
128062640-128118491 bp (+)
128081634
Autosomal Recessive (1;4)
0.800
2019-02-01
Anne Murray
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
C ⇒ T
missense
probably damaging
1.000
48
Nlrp3
0.104
Park2
11
59541568-59566956 bp (+)
59565128
Autosomal Dominant (1;4)
Autosomal Semidominant (1;5)
0.827
2019-01-29
Diantha La Vine
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
C ⇒ T
nonsense
probably null
49
Wdr41
0.000
metallica
13
94976344-95023314 bp (+)
95015174
Unknown
no linkage results
2019-01-09
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells - increased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - 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
FACS NK1.1+ T cells - increased
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to poly I:C
TLR signaling defect: hypersensitivity to R848
C ⇒ T
nonsense
probably null
50
Irf8
0.000
gemini
8
120736358-120756694 bp (+)
120743883
Unknown (2;0)
no linkage results
2018-11-29
Diantha La Vine
cellular phenotype
FACS CD8+ T cells - decreased
immune system
MCMV susceptibility
response to injected CpG DNA - decreased
C ⇒ T
nonsense
probably null
51
Ifnar1
0.000
shook
16
91485238-91507441 bp (+)
91499537
Unknown (1;0)
Autosomal Recessive (2;9)
0.475
2018-11-06
Diantha La Vine
dsDNA induced type I IFN production - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
impaired response to dsDNA- type I IFN production by macrophages
C ⇒ T
nonsense
probably null
52
Klf5
1.000
Bernie
14
99298691-99315036 bp (+)
99302230
Autosomal Semidominant (2;13)
0.785
2018-08-08
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
C ⇒ T
missense
probably damaging
1.000
53
Slc45a2
0.110
galak
15
11000721-11029233 bp (+)
11012667
Unknown
no linkage results
2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ T
missense
probably benign
0.000
54
Ednrb
0.728
gus-gus
14
103814625-103844402 bp (-)
103820013
Autosomal Recessive (1;2)
failed initial filter
2018-05-29
Anne Murray
lethality-postnatal
pigmentation
skin/coat/nails
C ⇒ T
missense
probably damaging
0.999
55
Myo5a
0.947
silver_decerebrate_2
9
75071015-75223688 bp (+)
75211127
Unknown
no linkage results
2018-05-22
Anne Murray
behavior/neurological
lethality-postnatal
life span-post-weaning/aging
pigmentation
skin/coat/nails
C ⇒ T
missense
probably damaging
1.000
56
Oca2
0.183
snowflake
7
56239760-56536518 bp (+)
56324680
Unknown
no linkage results
2018-01-12
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ T
missense
probably damaging
0.999
57
Fgf5
0.133
splinter
5
98254184-98277030 bp (+)
98261987
Autosomal Recessive (1;4)
0.481
2016-12-08
Anne Murray
skin/coat/nails
C ⇒ T
nonsense
probably null
58
Myo5a
0.947
naoki
9
75071015-75223688 bp (+)
75161492
Autosomal Recessive (1;2)
failed initial filter
2016-12-08
Anne Murray
behavior/neurological
pigmentation
skin/coat/nails
C ⇒ T
missense
probably damaging
1.000
59
Tyrp1
0.221
ca-los
4
80834123-80851719 bp (+)
80844868
Unknown (2;0)
Autosomal Recessive (1;1)
failed initial filter
2016-12-07
Anne Murray
MCMV resistance
pigmentation
skin/coat/nails
C ⇒ T
nonsense
probably null
60
Vldlr
0.288
r26
19
27216484-27254231 bp (+)
27245654
Unknown
no linkage results
2016-09-20
Katherine Timer
vision/eye
C ⇒ T
missense
probably damaging
0.989
61
Pax3
0.837
Widget
1
78101267-78197134 bp (-)
78122590
Unknown (1;0)
no linkage results
2016-05-13
Peter Jurek
pigmentation
skin/coat/nails
C ⇒ T
critical splice donor site
1 bp
probably null
62
Flt3
0.000
warmflash
5
147330741-147400489 bp (-)
147366918
Unknown (1;0)
no linkage results
2016-05-13
Anne Murray
FACS CD4:CD8 - increased
FACS CD8+ T cells in CD3+ T cells - decreased
growth/size
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
C ⇒ T
critical splice donor site
1 bp
probably null
63
Atp7a
0.683
Tigrou-like
X
106027276-106124926 bp (+)
106105250
Unknown
no linkage results
2016-05-13
Anne Murray
lethality-embryonic/perinatal
pigmentation
skin/coat/nails
C ⇒ T
missense
probably damaging
1.000
64
Tmprss6
0.070
masquerade
15
78439667-78468634 bp (-)
78468000
Unknown
no linkage results
2016-05-13
Peter Jurek
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
C ⇒ T
intron
probably benign
65
Col4a4
0.105
aoba
1
82448423-82586849 bp (-)
82535740
Unknown (1;0)
no linkage results
2016-05-13
Stephen Lyon
digestive/alimentary
hearing/vestibular/ear
renal/urinary system
C ⇒ T
critical splice donor site
1 bp
probably benign
66
Atp11c
0.316
ambrosius
X
60223290-60592698 bp (-)
36608577
Unknown
no linkage results
2016-05-13
Stephen Lyon
anemia
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
C ⇒ T
unclassified
1 bp
probably benign
[records 1 to 66 of 66]