Phenotypic Mutations

713 mutations affecting 342 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 713] per page Full List
 
question?
question?
question?
question?
~
question?
question?
question?
 

question?
question?
Phenotypic Category question?

and
and
and
1 UTSW Sgk3 0.275 1 9798107-9900845 bp (+) 9886104 Unknown 2017-04-11
Katherine Timer
 skin/coat/nails
2 UTSW Trpa1 0.119 1 14872648-14918862 bp (-) 14884116 Autosomal Recessive (1;7) 2018-07-19
Anne Murray
3 UTSW Trpa1 0.119 1 14872648-14918862 bp (-) 14891303 Autosomal Recessive (1;11) 2018-07-19
Anne Murray
4 UTSW Ly96 0.164 1 16688051-16709611 bp (+) 16691716 Autosomal Recessive (6;33) 2018-09-06
Anne Murray
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 NALP3 inflammasome signaling defect
 Nlrc4 inflammasome: low response
 NLRP3 inflammasome: low response
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
5 UTSW
has video
Dst 0.420 1 33908225-34308661 bp (+) 34164167 Unknown (2;0)
 Autosomal Recessive (4;28)
2016-05-13
Anne Murray
 behavior/neurological
 DSS: resistant day 7
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
6 UTSW
has video
Dst 0.420 1 33908225-34308661 bp (+) 34165155 Autosomal Dominant (1;1)
 Autosomal Recessive (4;14)
2016-05-13
Anne Murray
 behavior/neurological
 Body Weight - decreased
 growth/size
 TLR signaling defect: hypersensitivity to CpG + IFNg
 TLR signaling defect: hyposensitivity to poly I:C
 TLR signaling defect: TNF production by macrophages
7 UTSW Dst 0.420 1 33908225-34308661 bp (+) 34223795 Autosomal Semidominant (1;1) 2018-04-25
Anne Murray
 behavior/neurological
 growth/size
8 UTSW
has photo
Sema4c 1.000 1 36548639-36558349 bp (-) 36550311 Autosomal Recessive (1;3) 2018-12-05
Anne Murray
 pigmentation
 skin/coat/nails
9 UTSW Zap70 0.296 1 36761798-36782818 bp (+) 36770811 Unknown (8;0) 2017-08-08
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells - decreased
 FACS T cells - decreased
10 UTSW Zap70 0.296 1 36761798-36782818 bp (+) 36770983 Unknown 2017-08-08
Diantha La Vine
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
11 UTSW Zap70 0.296 1 36761798-36782818 bp (+) 36778218 Autosomal Recessive (25;438)
 Autosomal Semidominant (1;4)
2017-08-29
Anne Murray
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 FACS B cells - increased
 FACS B:T cells - increased
 FACS B1 cells - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - increased
 FACS IgM+ B 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
 OVA-specific IgE - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
12 UTSW Zap70 0.296 1 36761798-36782818 bp (+) 36779173 Autosomal Recessive (4;15) 2017-08-08
Diantha La Vine
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
13 APN Zap70 0.296 1 36761798-36782818 bp (+) 36779704 Unknown 2017-08-08
Diantha La Vine
 CD8 response - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 immune system
14 UTSW Zap70 0.296 1 36761798-36782818 bp (+) 36781025 Unknown 2017-08-08
Diantha La Vine
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic competition - disadvantage
 immune system
15 APN Zap70 0.296 1 36761798-36782818 bp (+) 36781149 Unknown 2017-08-08
Diantha La Vine
 CD8 response - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 immune system
16 UTSW Zap70 0.296 1 36761798-36782818 bp (+) 36781365 Autosomal Recessive (25;386) 2017-08-09
Anne Murray
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 FACS B cells - increased
 FACS B:T cells - increased
 FACS B1 cells - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - 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 CD4 T cells in CD4 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+ B cell percentage - increased
 FACS IgM+ B 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
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
17 UTSW Zap70 0.296 1 36761798-36782818 bp (+) 36781412 Unknown (11;0)
 Autosomal Dominant (3;6)

 Autosomal Recessive (9;86)
2017-08-08
Diantha La Vine
 30 min GTT hypoglycemic
 dsDNA induced type I IFN production - increased
 FACS B:T cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - increased
 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 T cells - decreased
 impaired response to dsDNA- type I IFN production by macrophages
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-dependent humoral response defect- increased antibody response to OVA+ alum immunization
 TLR signaling defect: hypersensitivity to LPS
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
18 UTSW Col3a1 0.842 1 45311538-45349706 bp (+) 45327866 Autosomal Recessive (2;7)
 Autosomal Semidominant (3;12)
2019-01-18
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS T cells - increased
19 UTSW Stat1 0.000 1 52119440-52161865 bp (+) 52123209 Autosomal Recessive (11;109) 2018-03-29
Diantha La Vine
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - 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 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
20 UTSW Stat1 0.000 1 52119440-52161865 bp (+) 52139264 Autosomal Dominant (7;44)
 Autosomal Recessive (17;202)

 Autosomal Semidominant (3;33)
2018-04-04
Anne Murray
 CTL killing - increased
 CTL killing dominant epitope - increased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - 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 CD8+ T cells in CD3+ T cells - decreased
 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 cells - decreased
 FACS NK T cells - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - decreased
21 UTSW Stat1 0.000 1 52119440-52161865 bp (+) 52140588 Unknown (3;0) 2018-03-29
Diantha La Vine
 immune system
 MCMV proliferation in macrophages - increased
 MCMV susceptibility
 NK cell response - decreased
 response to injected CpG DNA - decreased
 RVFV susceptibility
22 UTSW Stat1 0.000 1 52119440-52161865 bp (+) 52151225 Unknown (2;0) 2018-03-29
Diantha La Vine
 immune system
 MCMV susceptibility
 NK cell response - decreased
23 UTSW Stat1 0.000 1 52119440-52161865 bp (+) 52153923 Autosomal Recessive (2;16) 2018-03-29
Diantha La Vine
 fasting hyperglycemia (female)
 NK cell response - decreased
 NK killing - decreased
24 UTSW Casp8 1.000 1 58795374-58847503 bp (+) 58844770 Autosomal Recessive (9;57) 2018-09-24
Anne Murray
 FACS B1 cells - decreased
 FACS CD44+ CD4 MFI - decreased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
25 UTSW Ctla4 1.000 1 60887000-60915832 bp (+) 60912491 Autosomal Dominant (2;8)
 Autosomal Recessive (3;44)

 Autosomal Semidominant (5;27)
2018-09-07
Anne Murray
 Body Weight (Female) - 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 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
26 UTSW Crygd 0.304 1 65061872-65063452 bp (-) 65063084 Unknown 2016-05-13
Stephen Lyon
 vision/eye
27 UTSW
has photo
Crygb 0.000 1 65080219-65082288 bp (-) 65082157 Unknown 2017-03-30
Katherine Timer
 vision/eye
28 UTSW Epha4 0.781 1 77367185-77515088 bp (-) 77481076 Unknown 2018-05-22
Anne Murray
 behavior/neurological
29 UTSW
has photo
Pax3 0.720 1 78101267-78197134 bp (-) 78122590 Unknown (1;0) 2016-05-13
Peter Jurek
 pigmentation
 skin/coat/nails
30 UTSW Pax3 0.720 1 78101267-78197134 bp (-) 78132232 Autosomal Dominant (1;6) 2017-12-19
Anne Murray
 pigmentation
 skin/coat/nails
31 UTSW Irs1 0.401 1 82233101-82291416 bp (-) 82286967 Autosomal Recessive (6;32) 2018-10-24
Anne Murray
 Body Weight - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (DSS Male) - decreased
 Body Weight (DSS) - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
32 UTSW Irs1 0.401 1 82233101-82291416 bp (-) 82287732 Unknown (1;0)
 Autosomal Recessive (6;24)
2018-10-24
Anne Murray
 Body Weight - decreased
 Body Weight (Male) - decreased
 Fasting Insulin - increased
 Fasting Insulin (Male) - increased
33 UTSW Col4a4 0.289 1 82448423-82586849 bp (-) 82535740 Unknown (1;0) 2016-05-13
Stephen Lyon
 digestive/alimentary
 hearing/vestibular/ear
 renal/urinary system
34 UTSW Pde6d 0.212 1 86542994-86582629 bp (-) 86547526 Unknown (2;0)
 Autosomal Recessive (3;16)
2018-09-05
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
35 UTSW Inpp5d 0.914 1 87620312-87720507 bp (+) 87669784 Unknown (1;0) 2018-01-05
Eva Marie Y. Moresco
 CTL killing - decreased
 growth/size
 hematopoietic system
 homeostasis/metabolism
 immune system
 life span-post-weaning/aging
 respiratory system
36 UTSW Inpp5d 0.914 1 87620312-87720507 bp (+) 87697546 Autosomal Dominant (3;10)
 Autosomal Semidominant (5;25)
2018-05-10
Anne Murray
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B2 cells - decreased
 FACS CD11c+ DCs - increased
 FACS CD44+ CD4 T cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
37 UTSW Inpp5d 0.914 1 87620312-87720507 bp (+) 87705964 Autosomal Dominant (2;10)
 Autosomal Recessive (3;21)
2017-10-20
Anne Murray
 125-03 Response - increased
 FACS IgM MFI - decreased
 FACS NK cells - decreased
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: TNF production by macrophages
38 UTSW
has photo
Mlph 0.121 1 90915085-90951142 bp (+) 90928122 Autosomal Recessive (1;4) 2016-12-07
Anne Murray
 pigmentation
 skin/coat/nails
39 UTSW Mlph 0.121 1 90915085-90951142 bp (+) 90933301 Unknown 2016-05-13
Anne Murray
 pigmentation
 skin/coat/nails
40 UTSW Per2 0.236 1 91415982-91459324 bp (-) 91423829 Autosomal Recessive (2;24)
 Autosomal Semidominant (2;33)
2017-05-09
Eva Marie Y. Moresco
41 UTSW Mdm4 1.000 1 132959484-133030561 bp (-) 133012651 Autosomal Dominant (7;60) 2018-10-25
Anne Murray
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
42 UTSW
has video
Syt2 0.303 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
43 UTSW Ptprc 0.243 1 138062861-138175708 bp (-) 138067890 Autosomal Recessive (3;15)
 Autosomal Semidominant (4;29)
2018-10-05
Diantha La Vine
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - decreased
 FACS B220 MFI - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
44 UTSW Ptprc 0.243 1 138062861-138175708 bp (-) 138068401 Autosomal Recessive (48;482)
 Autosomal Semidominant (7;48)
2018-10-05
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+ 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
 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
45 UTSW Ptprc 0.243 1 138062861-138175708 bp (-) 138071249 Autosomal Dominant (2;8) 2018-10-05
Diantha La Vine
 Blood Pressure: SBP Day 2 - increased
46 UTSW Ptprc 0.243 1 138062861-138175708 bp (-) 138078451 Autosomal Semidominant (1;5) 2018-10-10
Anne Murray
 Body Weight (BP Male) - increased
47 APN Ptprc 0.243 1 138062861-138175708 bp (-) 138083790 Unknown 2018-10-05
Diantha La Vine
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
48 UTSW Ptprc 0.243 1 138062861-138175708 bp (-) 138094299 Autosomal Recessive (1;4)
 Autosomal Semidominant (1;4)
2018-10-05
Diantha La Vine
 FACS B1b cells in B1 cells - decreased
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: high response
49 UTSW Ptprc 0.243 1 138062861-138175708 bp (-) 138101041 Autosomal Recessive (17;235)
 Autosomal Semidominant (1;17)
2018-10-05
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
50 UTSW Ptprc 0.243 1 138062861-138175708 bp (-) 138113678 Autosomal Dominant (1;14)
 Autosomal Recessive (18;122)

 Autosomal Semidominant (2;12)
2018-10-05
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - 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 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
51 UTSW Ptprc 0.243 1 138062861-138175708 bp (-) 138137493 Unknown 2018-10-05
Diantha La Vine
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
52 UTSW Nek7 1.000 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant (2;10) 2018-05-21
Anne Murray
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
53 UTSW Pappa2 0.000 1 158711727-158980490 bp (-) 158716990 Autosomal Semidominant (2;11) 2019-01-15
Diantha La Vine
 Body Weight - decreased
 Body Weight (Male) - decreased
 growth/size
54 UTSW Pappa2 0.000 1 158711727-158980490 bp (-) 158782403 Autosomal Recessive (2;10) 2019-01-15
Diantha La Vine
 Body Weight - decreased
 Body Weight (BP) - decreased
55 UTSW Pappa2 0.000 1 158711727-158980490 bp (-) 158834918 Unknown (2;0)
 Autosomal Dominant (1;4)

 Autosomal Recessive (1;1)


 Autosomal Semidominant (1;5)
2019-01-15
Diantha La Vine
 Body Weight (Female) - decreased
 FACS B1b cells - decreased
 growth/size
56 UTSW Pappa2 0.000 1 158711727-158980490 bp (-) 158956645 Autosomal Dominant (1;4) 2019-01-18
Anne Murray
 Body Weight (BP Female) - decreased
57 APN Rc3h1 0.299 1 160906418-160974978 bp (+) 160940830 Unknown 2016-05-13
Peter Jurek
 autoimmunity
 immune system
58 UTSW
has photo
Rc3h1 0.299 1 160906418-160974978 bp (+) 160959399 Unknown (1;0)
 Autosomal Recessive (3;16)

 Autosomal Semidominant (4;17)
2016-05-13
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 growth/size
 limbs/digits/tail phenotype
 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
59 UTSW Fasl 0.355 1 161780689-161788495 bp (-) 161787138 Autosomal Recessive (1;6) 2016-05-13
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
60 UTSW Sell 0.000 1 164061982-164084181 bp (+) 164065661 Autosomal Recessive (4;54) 2016-05-17
Anne Murray
 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
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
61 UTSW Sell 0.000 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1;4)
 Autosomal Recessive (6;41)
2016-05-13
Peter Jurek
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - 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
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
62 UTSW Cd247 0.069 1 165788681-165877277 bp (+) 165855214 Unknown 2016-05-13
Stephen Lyon
 hematopoietic competition - disadvantage
 immune system
63 UTSW
has video
Mpz 0.183 1 171150711-171161130 bp (+) 171158810 Autosomal Recessive (1;4) 2018-05-22
Anne Murray
 behavior/neurological
64 UTSW Cr2 0.174 1 195136811-195176716 bp (-) 195155888 Autosomal Semidominant (1;4) 2018-10-16
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
65 UTSW
has photo
a 0.149 2 154791402-155051012 bp (+) Unknown 2016-05-13
Anne Murray
 pigmentation
 skin/coat/nails
66 UTSW
has photo
a 0.149 2 154791402-155051012 bp (+) Unknown 2016-05-13
Stephen Lyon
 pigmentation
 skin/coat/nails
67 UTSW
has photo
a 0.149 2 154791402-155051012 bp (+) Unknown 2016-05-13
Anne Murray
 pigmentation
 skin/coat/nails
68 UTSW Dclre1c 0.655 2 3424131-3464130 bp (+) 3436475 Autosomal Recessive (22;213) 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 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
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
69 UTSW
has photo
Dclre1c 0.655 2 3424131-3464130 bp (+) 3437705 Autosomal Recessive (35;533) 2018-06-15
Anne Murray
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 3 - decreased
 Blood Pressure: SBP Average - decreased
 Body Weight - decreased
 Body Weight (BP Female) - decreased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - 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 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 T cells - decreased
 FACS T cells - decreased
 growth/size
 skin/coat/nails
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - increased
70 UTSW Dclre1c 0.655 2 3424131-3464130 bp (+) 3452863 Autosomal Dominant (1;4)
 Autosomal Recessive (4;19)

 Autosomal Semidominant (3;12)
2018-06-15
Anne Murray
 Body Weight - increased
 Body Weight (Female) - increased
 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
71 UTSW Prkcq 0.000 2 11172108-11301222 bp (+) 11226986 Unknown 2016-11-08
Anne Murray
72 UTSW Prkcq 0.000 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive (1;6) 2018-01-18
Anne Murray
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
73 UTSW
has photo
Rxra 1.000 2 27676440-27762957 bp (+) 27752334 Unknown 2017-04-11
Katherine Timer
 hematopoietic system
 immune system
 pigmentation
 skeleton phenotype
 skin/coat/nails
 vision/eye
74 UTSW Ntmt1 0.283 2 30807826-30823033 bp (+) 30822365 Unknown (1;0)
 Autosomal Recessive (7;49)
2018-08-08
Anne Murray
 Body Weight - decreased
 Body Weight (DSS Female) - increased
 Body Weight (DSS Male) - decreased
 Body Weight (DSS) - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 FACS IgD MFI - decreased
 Nlrc4 inflammasome: high response
75 UTSW Ttc21b 1.000 2 66184327-66256617 bp (-) 66242679 Autosomal Recessive (2;18) 2018-07-27
Anne Murray
 Body Weight - increased
 Body Weight (Female) - increased
76 UTSW Neurod1 0.736 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive (4;17) 2018-02-02
Anne Murray
 behavior/neurological
 hearing/vestibular/ear
77 UTSW
has photo
Alx4 0.579 2 93642384-93681339 bp (+) 93675369 Unknown 2016-05-13
Stephen Lyon
 craniofacial
 limbs/digits/tail phenotype
78 UTSW Rag2 0.295 2 101624718-101632529 bp (+) 101630603 Autosomal Recessive (5;28)
 Autosomal Semidominant (1;4)
2017-05-17
Anne Murray
 FACS B1b cells - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS neutrophils - increased
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: high response
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
79 UTSW Rag1 0.504 2 101638282-101649501 bp (-) 101641223 Unknown 2016-05-13
Stephen Lyon
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 immune system
80 UTSW Rag1 0.504 2 101638282-101649501 bp (-) 101645647 Unknown (1;0) 2016-05-13
Stephen Lyon
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
 RVFV susceptibility
81 UTSW Cd44 0.344 2 102811141-102901665 bp (-) 102865370 Autosomal Dominant (2;30)
 Autosomal Semidominant (7;62)
2018-09-18
Anne Murray
 FACS CD44+ CD4 MFI - decreased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - decreased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - decreased
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS effector memory CD4 T cells in CD4 T cells - decreased
82 UTSW Rasgrp1 0.285 2 117279993-117343001 bp (-) 117284929 Autosomal Recessive (18;323)
 Autosomal Semidominant (1;11)
2018-10-12
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
83 UTSW Rasgrp1 0.285 2 117279993-117343001 bp (-) 117291792 Autosomal Recessive (26;515)
 Autosomal Semidominant (2;8)
2019-01-10
Anne Murray
 FACS B:T cells - increased
 FACS B1b cells - increased
 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 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 IgM MFI - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
84 UTSW Rasgrp1 0.285 2 117279993-117343001 bp (-) 117291895 Autosomal Dominant (2;17) 2018-10-16
Anne Murray
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ T MFI - increased
85 UTSW Rasgrp1 0.285 2 117279993-117343001 bp (-) 117302004 Autosomal Recessive (17;95)
 Autosomal Semidominant (2;8)
2018-10-12
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS 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
 IgA response to 2nd OVA/Alum Challenge (day 7) - 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
86 UTSW Eif2ak4 0.000 2 118388618-118475234 bp (+) 118400653 Unknown (2;0) 2016-05-13
Stephen Lyon
 adenovirus infection of macrophages - increased
 immune system
 MCMV proliferation in macrophages - increased
87 UTSW Trp53bp1 0.000 2 121193281-121271407 bp (-) 121207887 Autosomal Recessive (8;62) 2017-09-04
Diantha La Vine
 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 naive CD8 T cells in CD8 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
88 UTSW Trp53bp1 0.000 2 121193281-121271407 bp (-) 121211313 Autosomal Recessive (1;6)
 Autosomal Semidominant (1;4)
2017-09-15
Anne Murray
 FACS B2 cells - increased
 FACS IgD MFI - decreased
89 UTSW Trp53bp1 0.000 2 121193281-121271407 bp (-) 121251868 Autosomal Recessive (3;14) 2018-03-08
Diantha La Vine
 FACS B:T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS IgD MFI - decreased
 FACS T cells - decreased
90 UTSW Trp53bp1 0.000 2 121193281-121271407 bp (-) 121270319 Autosomal Dominant (1;4)
 Autosomal Recessive (1;4)
2017-09-15
Anne Murray
 30 Min. Insulin (Male) - decreased
 FACS IgD MFI - decreased
91 UTSW Gatm 0.000 2 122594467-122611303 bp (-) 122600744 Autosomal Recessive (3;23)
 Autosomal Semidominant (1;7)
2017-03-16
Katherine Timer
 Body Weight - decreased
 Body Weight (Male) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
92 UTSW Sppl2a 0.368 2 126890391-126933235 bp (-) 126920313 Autosomal Recessive (5;44)
 Autosomal Semidominant (1;4)
2016-10-28
Anne Murray
 FACS central memory CD8 T cells in CD8 T cells - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 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
93 UTSW Sppl2a 0.368 2 126890391-126933235 bp (-) 126923594 Unknown 2016-12-08
Katherine Timer
94 UTSW
has photo
Tgm3 0.088 2 130012349-130050399 bp (+) 130024585 Unknown (1;0) 2016-05-13
Stephen Lyon
 immune system
 RVFV susceptibility
 skin/coat/nails
95 UTSW Pax1 0.449 2 147361925-147393295 bp (+) 147365802 Unknown (1;0)
 Autosomal Semidominant (3;12)
2016-05-13
Anne Murray
 Body Weight - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (Female) - decreased
 limbs/digits/tail phenotype
96 UTSW Rims4 0.074 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive (1;6) 2018-02-06
Anne Murray
 Body Weight - decreased
 growth/size
97 UTSW Rims4 0.074 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive (2;13) 2018-02-06
Anne Murray
 Body Weight - decreased
 Body Weight (Male) - decreased
 growth/size
98 UTSW Stk4 0.000 2 164070322-164155524 bp (+) 164079566 Autosomal Recessive (4;21) 2018-08-15
Anne Murray
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 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 IgD MFI - decreased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
 Fasting Insulin (Female) - 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
99 UTSW Stk4 0.000 2 164070322-164155524 bp (+) 164083688 Autosomal Recessive (22;210) 2018-09-21
Anne Murray
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 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 IgD MFI - decreased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
 Fasting Insulin (Female) - 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
100 UTSW Stk4 0.000 2 164070322-164155524 bp (+) 164099827 Autosomal Recessive (27;309) 2018-10-29
Diantha La Vine
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 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 IgD MFI - decreased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
 Fasting Insulin (Female) - 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
[records 1 to 100 of 713]