Phenotypic Mutations

598 mutations affecting 284 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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1 UTSW Ebf1 Oregano2 11 44617317-45008091 bp (+) 44990504 Autosomal Recessive (1;4)
 Autosomal Semidominant (2;10)
2018-07-19
Anne Murray
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS T cells - increased
immune system
2 UTSW Nfkb1 kookaburra 3 135584655-135691547 bp (-) 135626611 Autosomal Dominant (1;7)
 Autosomal Recessive (4;54)

 Autosomal Semidominant (5;29)
2018-07-19
Anne Murray
FACS B1 cells - decreased
FACS CD44+ CD8 MFI - increased
FACS central memory CD4 T cells in CD4 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 naive CD8 T cells in CD8 T cells - decreased
immune system
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 - decreased
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
3 UTSW Rasgrp1 venutian 2 117279993-117343001 bp (-) 117284929 Autosomal Recessive (18;268) 2018-07-19
Anne Murray
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 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
immune system
4 UTSW Rasgrp1 grouper 2 117279993-117343001 bp (-) 117302004 Autosomal Recessive (12;62)
 Autosomal Semidominant (2;8)
2018-07-19
Anne Murray
FACS B:T cells - increased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ 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 NK cells - increased
IgA response to 2nd OVA/Alum Challenge (day 7) - increased
immune system
Pfizer: DyMA Residual - increased
Pfizer: DyMA Residual (Male) - increased
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 level - increased
5 UTSW Trpa1 petrified 1 14872648-14918862 bp (-) 14884116 Autosomal Recessive (1;7) 2018-07-19
Anne Murray
innate fear - decreased
nervous system
6 UTSW Trpa1 fear-2 1 14872648-14918862 bp (-) 14891303 Autosomal Recessive (1;11) 2018-07-19
Anne Murray
innate fear - decreased
nervous system
7 UTSW Ebf1 oregano 11 44617317-45008091 bp (+) 44869169 Autosomal Recessive (12;86)
 Autosomal Semidominant (4;22)
2018-07-18
Anne Murray
FACS B 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 CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
immune system
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
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
8 UTSW Ebf1 crater_lake 11 44617317-45008091 bp (+) 44972908 Unknown (8;0) 2018-07-18
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
immune system
9 UTSW Pax5 k2 4 44531145-44710487 bp (-) 44697630 Autosomal Recessive (1;4)
 Autosomal Semidominant (1;4)
2018-07-18
Anne Murray
FACS B220 MFI - decreased
FACS IgD MFI - decreased
immune system
10 UTSW Pax5 Glacier3 4 44531145-44710487 bp (-) 44679526 Autosomal Dominant (1;4) 2018-07-18
Anne Murray
FACS IgD MFI - decreased
immune system
11 UTSW Pax5 glacier2 4 44531145-44710487 bp (-) 44710407 Autosomal Recessive (13;215)
 Autosomal Semidominant (2;32)
2018-07-18
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
immune system
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
12 UTSW Pax5 glacier 4 44531145-44710487 bp (-) 44679494 Autosomal Recessive (2;21)
 Autosomal Semidominant (1;7)
2018-07-18
Anne Murray
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - decreased
immune system
13 UTSW Lig4 posey2 8 9970020-9976323 bp (-) 9971585 Autosomal Recessive (3;17) 2018-07-18
Anne Murray
FACS CD44+ CD4 MFI - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
immune system
14 UTSW Lig4 posey 8 9970020-9976323 bp (-) 9972955 Autosomal Recessive (16;134)
 Autosomal Semidominant (2;8)
2018-07-18
Anne Murray
FACS B cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T MFI - 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 IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
immune system
resistance to B10-F16 melanoma - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
15 UTSW Aicda creeper 6 122553801-122564180 bp (+) 122561867 Autosomal Recessive (3;21)
 Autosomal Semidominant (2;16)
2018-07-18
Anne Murray
immune system
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
16 UTSW Aicda bellezza 6 122553801-122564180 bp (+) 122561185 Autosomal Dominant (1;4)
 Autosomal Recessive (7;40)

 Autosomal Semidominant (1;9)
2018-07-18
Anne Murray
immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: high response
NLRP3 inflammasome: high response
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
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: TNF production by macrophages
total IgE level - decreased
17 UTSW Pnp porch2 14 50944302-50953412 bp (+) 50951506 Autosomal Recessive (20;135)
 Autosomal Semidominant (2;8)
2018-07-18
Anne Murray
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+ CD4 MFI - 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 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 T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
18 UTSW Pnp Porch 14 50944302-50953412 bp (+) 50950923 Autosomal Recessive (1;5)
 Autosomal Semidominant (2;9)
2018-07-18
Anne Murray
30 Min. Insulin (Male) - decreased
immune system
Pfizer: DyMA Residual (Male) - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
19 UTSW Prkcd rigged2 14 30595358-30626210 bp (-) 30599743 Autosomal Recessive (2;11)
 Autosomal Semidominant (2;11)
2018-07-18
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
FACS NK cells - decreased
immune system
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
20 UTSW Prkcd Rigged 14 30595358-30626210 bp (-) 30610301 Autosomal Recessive (1;5)
 Autosomal Semidominant (2;9)
2018-07-18
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
FACS NK cells - decreased
immune system
21 UTSW Dck rosa 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive (19;119) 2018-07-15
External Program
FACS B cells - decreased
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 CD8+ T cells in CD3+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
OVA-specific IgE - increased
Pfizer: increase in 30 Min Glucose Residual
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 - increased
22 UTSW Ptprc Half_measure 1 138062861-138175708 bp (-) 138071249 Autosomal Semidominant (3;13) 2018-07-13
Anne Murray
FACS CD44+ CD4 MFI - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
immune system
23 UTSW Ptprc guotie 1 138062861-138175708 bp (-) 138068401 Autosomal Recessive (49;486)
 Autosomal Semidominant (7;48)
2018-07-10
Diantha La Vine
30 min GTT hypoglycemic
30 min GTT hypoglycemic (male)
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 NK T cells - decreased
FACS T cells - decreased
immune system
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 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 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
24 UTSW Ptprc guotie2 1 138062861-138175708 bp (-) 138094299 Autosomal Recessive (18;94)
 Autosomal Semidominant (2;10)
2018-07-10
Diantha La Vine
DSS: sensitive day 7
FACS B cells - decreased
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD4+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS T cells - decreased
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
T-dependent humoral response defect- decreased antibody response to rSFV
25 UTSW Ptprc belittle 1 138062861-138175708 bp (-) 138137493 Unknown 2018-07-10
Diantha La Vine
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
26 APN Ptprc lochy 1 138062861-138175708 bp (-) 138083790 Unknown 2018-07-10
Diantha La Vine
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
27 UTSW Ptprc fuchsia 1 138062861-138175708 bp (-) 138101041 Autosomal Recessive (17;235)
 Autosomal Semidominant (1;17)
2018-07-10
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
immune system
28 UTSW Prkdc clover 16 15637866-15842235 bp (+) 15702157 Unknown 2018-06-22
Diantha La Vine
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
29 UTSW Slc13a5 punk2 11 72241994-72267222 bp (-) 72253391 Autosomal Recessive (3;16) 2018-06-19
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (HFD
0 weeks) - decreased
30 UTSW Slc13a5 Punk 11 72241994-72267222 bp (-) 72262076 Autosomal Recessive (2;8)
 Autosomal Semidominant (2;10)
2018-06-15
Diantha La Vine
Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
growth/size
31 UTSW Fnip1 hamel2 11 54438199-54518235 bp (+) 54502271 Autosomal Recessive (7;116) 2018-06-15
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS T cells - increased
immune system
32 UTSW Fnip1 hamel 11 54438199-54518235 bp (+) 54480685 Unknown 2018-06-15
Diantha La Vine
hematopoietic competition - disadvantage
hematopoietic system
homeostasis/metabolism
muscle
33 UTSW Dclre1c Chairy 2 3424131-3464130 bp (+) 3452863 Autosomal Dominant (1;4)
 Autosomal Recessive (3;14)

 Autosomal Semidominant (5;20)
2018-06-15
Anne Murray
Body Weight - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ T MFI - 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 CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
34 UTSW
has photo
Dclre1c pee-wee 2 3424131-3464130 bp (+) 3437705 Autosomal Recessive (28;490) 2018-06-15
Anne Murray
Blood Pressure: SBP Average - decreased
Body Weight - decreased
Body Weight (Male) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 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 - 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 CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 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 T cells - decreased
FACS T cells - decreased
growth/size
immune system
skin/coat/nails
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
total IgE level - increased
35 UTSW Dclre1c kiwis 2 3424131-3464130 bp (+) 3436475 Autosomal Recessive (23;217) 2018-06-15
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - increased
FACS B1a cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD11c+ DCs - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS NK cells - increased
FACS NK T cells - decreased
FACS T cells - decreased
immune system
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
36 UTSW Vav1 tardive 17 57279100-57328031 bp (+) 57303079 Autosomal Recessive (17;206)
 Autosomal Semidominant (2;23)
2018-06-13
Anne Murray
FACS B:T cells - increased
FACS B1 cells - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
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 IgD MFI - decreased
FACS IgM MFI - 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
immune system
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
37 UTSW Vav1 Plain_sight 17 57279100-57328031 bp (+) 57297122 Autosomal Semidominant (1;5) 2018-06-13
Anne Murray
FACS B1 cells - decreased
immune system
38 UTSW Itgb2 nibbler 10 77530252-77565708 bp (+) 77561216 Autosomal Recessive (24;175) 2018-06-13
Anne Murray
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B cells - decreased
FACS B:T cells - decreased
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 NK T cells - increased
immune system
NK cell response - decreased
NK killing - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - increased
39 UTSW Itgb2 newhome 10 77530252-77565708 bp (+) 77559681 Autosomal Recessive (2;21) 2018-06-13
Anne Murray
dsDNA induced type I IFN production - increased
immune system
impaired response to dsDNA- type I IFN production by macrophages
40 UTSW Tbk1 pioneer 10 121546455-121586794 bp (-) 121578690 Unknown 2018-06-13
Anne Murray
impaired response to dsDNA- type I IFN production by macrophages
lethality-embryonic/perinatal
41 UTSW
has photo
Rorb 4-limb_clasper 19 18930605-19111196 bp (-) 18983351 Unknown 2018-06-12
Diantha La Vine
behavior/neurological
42 UTSW
has photo
Ednrb gus-gus 14 103814625-103844173 bp (-) 103820013 Autosomal Recessive (1;2) 2018-05-29
Anne Murray
lethality-postnatal
pigmentation
skin/coat/nails
43 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (1;5)
 Autosomal Semidominant (1;4)
2018-05-24
Anne Murray
Body Weight - increased
Body Weight (Male) - increased
growth/size
44 UTSW
has photo
Spink5 crusty2 18 43963235-44022501 bp (+) 43999935 Unknown (1;0) 2018-05-22
Anne Murray
immune system
lethality-postnatal
skin/coat/nails
45 UTSW
has video
Atcay wobbley 10 81204508-81230833 bp (-) 81220573 Unknown 2018-05-22
Anne Murray
behavior/neurological
46 UTSW
has photo
Lyst vulpix 13 13590409-13777440 bp (+) 13696794 Autosomal Recessive (6;23) 2018-05-22
Anne Murray
Circadian rhythm
Circadian Tau Chi Squared Periodogram - decreased
FACS CD44+ CD8 T cells - increased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS NK T cells - increased
immune system
innate fear - decreased
nervous system
pigmentation
skin/coat/nails
47 UTSW
has video
Efnb3 turtle 11 69554092-69560205 bp (-) 69557283 Unknown (1;0) 2018-05-22
Anne Murray
behavior/neurological
48 UTSW
has video
Esrp1 triaka 4 11331933-11386783 bp (-) 11379300 Unknown (1;0) 2018-05-22
Anne Murray
behavior/neurological
hearing/vestibular/ear
49 UTSW Scn8a Tremord 15 100870683-101045929 bp (+) 101013504 Unknown 2018-05-22
Anne Murray
behavior/neurological
50 UTSW
has video
Mpz taz 1 171150711-171161130 bp (+) 171158810 Autosomal Recessive (1;4) 2018-05-22
Anne Murray
behavior/neurological
eye: optic nerve anomaly
51 UTSW Grid2 swagger 6 63255876-64668282 bp (+) 64395280 Unknown 2018-05-22
Anne Murray
behavior/neurological
52 UTSW
has video
Pcdh15 squirm 10 73099342-74649737 bp (+) Unknown 2018-05-22
Anne Murray
behavior/neurological
hearing/vestibular/ear
53 UTSW Myo5a silver_decerebrate_2 9 75071015-75223688 bp (+) 75211127 Unknown 2018-05-22
Anne Murray
behavior/neurological
lethality-postnatal
life span-post-weaning/aging
pigmentation
skin/coat/nails
54 UTSW Grm7 shaky 6 110645581-111567230 bp (+) 111495791 Autosomal Recessive (1;2) 2018-05-22
Anne Murray
behavior/neurological
limbs/digits/tail phenotype
nervous system
55 UTSW
has video
Agtpbp1 rio 13 59449537-59585227 bp (-) 59525241 Unknown 2018-05-22
Anne Murray
behavior/neurological
growth/size
56 UTSW
has video
Myo6 mayday_circler 9 80165031-80311729 bp (+) 80246451 Unknown 2018-05-22
Anne Murray
behavior/neurological
hearing/vestibular/ear
57 UTSW
has video
Syt2 kringle 1 134646677-134762593 bp (+) 134747620 Autosomal Recessive (1;3)
 Autosomal Semidominant (1;1)
2018-05-22
Anne Murray
behavior/neurological
Body Weight - decreased
growth/size
lethality-postnatal
nervous system
58 UTSW Kcnn2 jitter 18 45268860-45685887 bp (+) 45561253 Unknown 2018-05-22
Anne Murray
behavior/neurological
59 UTSW
has video
Agtpbp1 gru 13 59449537-59585227 bp (-) 59473746 Autosomal Recessive (19;136)
 Autosomal Semidominant (1;5)
2018-05-22
Anne Murray
behavior/neurological
Blood Pressure: HR Day 3 - decreased
Body Weight - decreased
Body Weight (BP Female) - decreased
Body Weight (BP Male) - decreased
Body Weight (BP) - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Bone: Femur BMD - decreased
Bone: Fore Hip Distance - decreased
Bone: Lean Mass - decreased
Bone: Pelvis Length - decreased
Bone: Pelvis Length (female) - decreased
Bone: Tibia Length - decreased
growth/size
Motor: Rotarod Average - decreased
Motor: Rotarod Test 1 - decreased
Motor: Rotarod Test 2 - decreased
Motor: Rotarod Test 3 - decreased
Motor: Rotarod Training 2 - decreased
Motor: Rotarod Training 3 - decreased
60 UTSW
has video
Rorb grasshopper 19 18930605-19111196 bp (-) 19110557 Unknown 2018-05-22
Anne Murray
behavior/neurological
61 UTSW Epha4 frog 1 77367189-77515088 bp (-) 77481076 Unknown 2018-05-22
Anne Murray
behavior/neurological
62 UTSW Agtpbp1 drunk 13 59449537-59585227 bp (-) 59512323 Unknown 2018-05-22
Anne Murray
behavior/neurological
63 UTSW
has video
Rorb dee-no 19 18930605-19111196 bp (-) 18955053 Autosomal Recessive (8;34) 2018-05-22
Anne Murray
behavior/neurological
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Circadian Power FFT - decreased
Circadian rhythm
Circadian Tau Activity Onset - increased
Circadian Tau DD by eye - increased
Circadian Wheel Revs/24H - decreased
innate fear - decreased
limbs/digits/tail phenotype
nervous system
64 UTSW
has video
Grid2 crawler 6 63255876-64668282 bp (+) 64429694 Autosomal Recessive (2;5) 2018-05-22
Anne Murray
behavior/neurological
growth/size
immune system
MCMV susceptibility
nervous system
65 UTSW
has video
Scn8a nymph 15 100870683-101045929 bp (+) 101035646 Unknown (1;0)
 Autosomal Recessive (1;5)
2018-05-22
Anne Murray
behavior/neurological
Body Weight - decreased
growth/size
66 UTSW Lepr giant 4 101717404-101815352 bp (+) 101765152 Autosomal Recessive (9;61) 2018-05-22
Anne Murray
30 min GTT hyperglycemic
Body Weight - increased
Body Weight (Male) - increased
eye: decrease in BM to ELM thickness
growth/size
immune system
NK cell response - decreased
NK killing - decreased
OVA-specific IgE - increased
Pfizer: decrease in fasting glucose residual (male)
total IgE level - increased
67 UTSW Nek7 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant (2;10) 2018-05-21
Anne Murray
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
68 UTSW Itk itxaro 11 46325150-46389515 bp (-) 46338217 Autosomal Recessive (10;58) 2018-05-17
Anne Murray
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 CD44+ T MFI - 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 CD8 T cells in CD8 T cells - decreased
IgE response to a Cysteine Protease (Papain) - increased
immune system
total IgE level - increased
69 UTSW Cd40lg walla X 57212143-57224042 bp (+) 57223465 Unknown (2;0) 2018-05-17
Anne Murray
70 UTSW Tlr2 languid 3 83836272-83841767 bp (-) 83837315 Unknown (1;0) 2018-05-15
Anne Murray
immune system
TLR signaling defect: TNF production by macrophages
71 UTSW Themis cloudies 10 28668360-28883818 bp (+) 28761199 Autosomal Recessive (18;248) 2018-05-15
Anne Murray
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
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+ CD8 MFI - increased
FACS CD44+ CD8 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 naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
72 UTSW Inpp5d Orange 1 87620312-87720507 bp (+) 87697546 Autosomal Dominant (3;10)
 Autosomal Semidominant (6;30)
2018-05-10
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD11c+ DCs - increased
FACS CD44+ CD4 T cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
immune system
73 UTSW
has photo
Lepr fluffy 4 101717404-101815352 bp (+) 101792023 Autosomal Recessive (34;430) 2018-05-08
Bruce Beutler
Blood Pressure: HR Average - decreased
Blood Pressure: HR Day 3 - decreased
Blood Pressure: SBP Average - decreased
Blood Pressure: SBP Day 3 - decreased
Body Weight - increased
Body Weight (Female) - increased
Body Weight (HFD
0 weeks) - increased
Body Weight (HFD
2 weeks) - increased
Body Weight (HFD
4 weeks) - increased
Bone: Fat Mass - increased
Bone: Fat Mass (female) - increased
Bone: Fat Mass (male) - increased
Bone: Lean Fat Ratio - decreased
Bone: Lean Fat Ratio (female) - decreased
Bone: Liver Fat - increased
Bone: Liver Fat (female) - increased
Bone: Liver Fat (normalized) - decreased
Bone: Liver Fat (normalized
female) - decreased
Bone: Pelvis Length - decreased
Bone: Pelvis Length (female) - decreased
Bone: Tibia Length - decreased
Bone: Tibia Length (female) - decreased
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
growth/size
immune system
Insulin (HFD
2h refeeding) - increased
Insulin (HFD
fasting) - increased
Liver Triglyceride (HFD) - increased
Motor: Rotarod Average - decreased
Motor: Rotarod Test 1 - decreased
Motor: Rotarod Test 2 - decreased
Motor: Rotarod Test 3 - decreased
74 UTSW Ifnar1 shook 16 91485238-91507441 bp (+) 91499537 Autosomal Recessive (10;42) 2018-05-08
Anne Murray
dsDNA induced type I IFN production - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
immune system
impaired response to dsDNA- type I IFN production by macrophages
75 UTSW Entpd5 eatsy 12 84373875-84409029 bp (-) 84382295 Autosomal Recessive (9;41)
 Autosomal Semidominant (1;4)
2018-05-08
Anne Murray
125-03 Response - increased
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (Female) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1 cells - increased
FACS IgD MFI - decreased
growth/size
immune system
phagocytosis in PECs - decreased
76 UTSW Ikbkb Impaired 8 22659212-22706589 bp (-) 22666020 Autosomal Recessive (2;8)
 Autosomal Semidominant (7;30)
2018-05-04
External Program
125-03 Response - decreased
IgE response to a Cysteine Protease (Papain) - decreased
IgG1 response to a Cysteine Protease (Papain) - decreased
immune system
MCMV susceptibility
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
77 UTSW
has photo
Gk5 toku 9 96119362-96184608 bp (+) 96140629 Unknown (1;0)
 Autosomal Recessive (2;5)
2018-04-27
Anne Murray
FACS CD4:CD8 - decreased
immune system
skin/coat/nails
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
78 UTSW Gk5 tangyuan 9 96119362-96184608 bp (+) 96150797 Autosomal Dominant (1;5)
 Autosomal Recessive (5;20)
2018-04-27
Anne Murray
FACS B1b cells - decreased
FACS CD4:CD8 - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
immune system
skin/coat/nails
79 UTSW
has photo
Gk5 sean 9 96119362-96184608 bp (+) 96176237 Autosomal Recessive (9;82)
 Autosomal Semidominant (1;5)
2018-04-27
Anne Murray
Blood Pressure: HR Day 1 - increased
FACS CD4:CD8 - decreased
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 naive CD8 T cells in CD8 T cells - decreased
immune system
skin/coat/nails
80 UTSW
has photo
Gk5 homer 9 96119362-96184608 bp (+) 96140656 Autosomal Recessive (9;60) 2018-04-27
Anne Murray
FACS CD4:CD8 - decreased
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
immune system
skin/coat/nails
81 UTSW Gk5 barrener 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive (5;27)
 Autosomal Semidominant (1;4)
2018-04-27
Anne Murray
FACS CD4:CD8 - decreased
FACS CD44+ CD8 T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
immune system
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
skin/coat/nails
82 UTSW Slc24a4 spindly 12 102128733-102267091 bp (+) 102264944 Autosomal Recessive (2;8) 2018-04-26
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
83 UTSW
has photo
Spag9 dazzle 11 93996091-94126085 bp (+) 94093624 Unknown 2018-04-26
Anne Murray
pigmentation
skin/coat/nails
84 UTSW
has video
Myo6 torticollis 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive (4;15) 2018-04-25
Anne Murray
behavior/neurological
dsDNA induced type I IFN production - increased
hearing/vestibular/ear
immune system
impaired response to dsDNA- type I IFN production by macrophages
85 UTSW
has video
Pcdh15 spaz 10 73099342-74649737 bp (+) 74210425 Autosomal Recessive (1;5) 2018-04-25
Anne Murray
behavior/neurological
hearing/vestibular/ear
86 UTSW
has photo
Ednrb pongo 14 103814625-103844173 bp (-) 103823274 Autosomal Recessive (1;3) 2018-04-25
Anne Murray
digestive/alimentary
growth/size
life span-post-weaning/aging
pigmentation
skin/coat/nails
87 UTSW Dst phelps 1 33908225-34308661 bp (+) 34223795 Autosomal Semidominant (1;1) 2018-04-25
Anne Murray
behavior/neurological
growth/size
88 UTSW
has video
Pcdh15 mcduck 10 73099342-74649737 bp (+) 74626844 Autosomal Recessive (1;4) 2018-04-25
Anne Murray
behavior/neurological
hearing/vestibular/ear
89 UTSW Atp2b2 lohan 6 113745669-114042613 bp (-) 113760650 Autosomal Recessive (4;14) 2018-04-25
Anne Murray
behavior/neurological
Body Weight - decreased
Body Weight (Female) - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
hearing/vestibular/ear
immune system
90 UTSW
has photo
Ksr2 gigante 5 117414000-117775003 bp (+) 117671449 Unknown (1;0)
 Autosomal Recessive (4;18)
2018-04-25
Anne Murray
Body Weight - increased
Body Weight (Female) - increased
growth/size
immune system
impaired response to dsDNA- type I IFN production by macrophages
Pfizer: decrease in 30 Min glucose residual (female)
91 UTSW
has photo
Tshr freckle 12 91400994-91540509 bp (+) 91538226 Unknown (1;0)
 Autosomal Recessive (2;10)
2018-04-25
Anne Murray
125-03 Response - increased
Body Weight - decreased
endocrine/exocrine gland
growth/size
immune system
92 UTSW Rab38 fenrir 7 88430273-88491466 bp (+) 88450541 Autosomal Recessive (1;4)
 Autosomal Semidominant (1;5)
2018-04-25
Anne Murray
dsDNA induced type I IFN production - increased
immune system
impaired response to dsDNA- type I IFN production by macrophages
pigmentation
skin/coat/nails
93 UTSW
has photohas video
Grm1 donald 10 10686059-11082356 bp (-) 10741508 Autosomal Recessive (1;2) 2018-04-25
Anne Murray
behavior/neurological
growth/size
life span-post-weaning/aging
skeleton phenotype
94 UTSW Cdh23 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1;4) 2018-04-25
Anne Murray
behavior/neurological
hearing/vestibular/ear
95 UTSW
has video
Scn8a dan 15 100870683-101045929 bp (+) 101035624 Autosomal Recessive (1;3) 2018-04-25
Anne Murray
behavior/neurological
96 UTSW
has video
Myo7a coward 7 98051060-98119524 bp (-) 98085466 Autosomal Recessive (3;17) 2018-04-25
Anne Murray
behavior/neurological
Circadian rhythm
Circadian Tau Activity Onset - decreased
Circadian Tau DD by eye - decreased
hearing/vestibular/ear
97 UTSW
has photo
Oca2 cotton 7 56239760-56536517 bp (+) 56535968 Autosomal Recessive (1;3) 2018-04-25
Anne Murray
pigmentation
skin/coat/nails
98 APN Muc2 kenny 7 141690340-141754693 bp (+) Unknown 2018-04-25
Anne Murray
inflammatory bowel disease phenotype
99 UTSW Bcl10 derek 3 145924378-145934283 bp (+) 145930587 Autosomal Dominant (1;4)
 Autosomal Recessive (15;155)

 Autosomal Semidominant (2;11)
2018-04-25
Anne Murray
Bone: Femur BMD (female) - increased
FACS B1 cells - decreased
FACS CD4+ T cells - increased
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 - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgM MFI - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - increased
immune system
OVA-specific IgE - 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
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
total IgE level - increased
100 UTSW Edar achtung2 10 58600789-58675654 bp (-) 58603163 Unknown 2018-04-24
Diantha La Vine
craniofacial
limbs/digits/tail phenotype
skin/coat/nails
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