Phenotypic Mutations

116 mutations affecting 89 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 116] per page Full List Export
 
Source question?
Photo question?
Gene question?
E Score question?
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Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Updated question?
Phenotypic Category question?

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1 UTSW Tlr9 0.111 cpg1 9 106222598-106226883 bp (+) 106225007 Unknown (3;0) 2018-12-14
Diantha La Vine
 immune system
 MCMV susceptibility
 response to injected CpG DNA - decreased
 TLR signaling defect: TNF production by macrophages
 TLR signaling defect: type I IFN production by macrophages
2 UTSW Alms1 0.000 portly 6 85587531-85702753 bp (+) 85619712 Autosomal Recessive (2;10) 2018-12-07
Diantha La Vine
 Body Weight - increased
 Body Weight (BP Female) - increased
 Body Weight (Female) - increased
3 UTSW Zfp318 0.000 Wonton 17 46383731-46420920 bp (+) 46409692 Autosomal Semidominant (3;21) 2018-12-06
Anne Murray
 post-MCMV FACS B1b cells - decreased
 post-MCMV FACS IgD MFI - decreased
4 UTSW Irf8 0.000 gemini2 8 120736358-120756694 bp (+) 120753707 Autosomal Recessive (3;23) 2018-11-30
Anne Murray
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
5 UTSW Dock2 0.000 liaoning 11 34226815-34783892 bp (-) 34708793 Autosomal Recessive (5;24) 2018-11-29
Diantha La Vine
 FACS B1b cells in B1 cells - increased
 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
6 UTSW Il4ra 0.056 Lowe 7 125552120-125579474 bp (+) 125567221 Autosomal Dominant (1;2)
 Autosomal Semidominant (1;5)
2018-11-16
Anne Murray
 OVA-specific IgE - decreased
 total IgE level - decreased
7 UTSW Gsdmd 0.000 gasder 15 75862327-75867408 bp (+) 75864357 Autosomal Recessive (1;9) 2018-11-16
Anne Murray
 Nlrc4 inflammasome: low response
8 UTSW Rho 0.155 bemr3 6 115931748-115940036 bp (+) 115935131 Unknown 2018-11-01
Diantha La Vine
 vision/eye
9 UTSW Stk4 0.000 hallon 2 164070322-164155524 bp (+) 164099827 Autosomal Recessive (26;302) 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
10 UTSW Ebf1 0.929 oregano 11 44617317-45008091 bp (+) 44869169 Autosomal Recessive (11;68)
 Autosomal Semidominant (4;22)
2018-10-26
Anne Murray
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B1a 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
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
11 UTSW Prkcb 0.000 untied 7 122288751-122634402 bp (+) 122582439 Unknown (1;0) 2018-10-25
Diantha La Vine
 immune system
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
12 UTSW
has photo
Fgf3 0.660 Porkchop 7 144838083-144844436 bp (+) 144840707 Autosomal Dominant (2;6)
 Autosomal Recessive (1;3)
2018-10-25
Anne Murray
 Body Weight - decreased
 limbs/digits/tail phenotype
 OVA-specific IgE after 2nd OVA/Alum - increased
13 UTSW Rasgrp1 0.285 Haddock 2 117279993-117343001 bp (-) 117291895 Autosomal Dominant (2;17) 2018-10-16
Anne Murray
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ T MFI - increased
14 UTSW Galc 0.000 Crabby2 12 98202294-98259459 bp (-) 98234266 Autosomal Semidominant (1;7) 2018-10-02
Diantha La Vine
 Body Weight - decreased
15 UTSW Casp8 1.000 amontillado 1 58795374-58847503 bp (+) 58844770 Autosomal Recessive (10;59) 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
16 UTSW Gk5 0.000 barrener 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive (5;27)
 Autosomal Semidominant (1;4)
2018-09-24
Anne Murray
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: high response
 skin/coat/nails
17 UTSW Asf1b 0.000 contraire 8 83955507-83970197 bp (+) 83955911 Autosomal Recessive (3;14) 2018-09-21
Anne Murray
 FACS CD44+ CD8 MFI - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 OVA-specific IgE - increased
 total IgE level - increased
18 UTSW Nlrp1a 0.182 dreary 11 71092236-71144704 bp (-) 71113640 Autosomal Recessive (10;53) 2018-09-10
Anne Murray
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS IgM+ B cells - decreased
 FACS neutrophils - increased
 FACS NK cells - decreased
 fasting hypoglycemia
 fasting hypoglycemia (male)
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
19 UTSW Ctla4 1.000 complementary 1 60887000-60915832 bp (+) 60912491 Autosomal Dominant (1;4)
 Autosomal Recessive (3;44)

 Autosomal Semidominant (4;23)
2018-09-07
Anne Murray
 Body Weight (Female) - increased
 FACS CD44+ CD4 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 Tnfrsf9 0.108 asilomar 4 150914562-150946102 bp (+) 150929874 Autosomal Recessive (9;49) 2018-09-07
Anne Murray
 FACS B cells - increased
 FACS B:T cells - increased
 FACS 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 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
21 UTSW Pde6d 0.212 costume 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
22 UTSW Gys2 0.494 candy_corn 6 142422613-142473109 bp (-) 142456333 Autosomal Recessive (1;4) 2018-08-29
Anne Murray
 30 min GTT hyperglycemic
23 UTSW Dck 0.000 rosa 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive (19;119) 2018-08-21
External Program
 Body Weight - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS B220 MFI - decreased
 FACS CD11b+ DCs (gated in CD11c+ cells) - increased
 FACS CD11c+ DCs - 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+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS CD8a+ DCs (gated in CD11c+ 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 IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - 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
 OVA-specific 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 level - increased
24 UTSW Tnfrsf13c 0.100 Teton_range 15 82221743-82224369 bp (-) 82223154 Autosomal Recessive (1;5)
 Autosomal Semidominant (2;13)
2018-08-20
Anne Murray
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD8+ T cells - increased
25 UTSW Stk4 0.000 ribeye 2 164070322-164155524 bp (+) 164079566 Autosomal Recessive (5;25) 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
26 UTSW
has photo
Kitl 0.579 mooyah 10 100015630-100100416 bp (+) 100088222 Autosomal Recessive (1;4) 2018-08-06
Anne Murray
 pigmentation
 skin/coat/nails
27 UTSW
has photo
Lyst 0.466 vulpix 13 13590397-13778803 bp (+) 13696794 Autosomal Recessive (3;10) 2018-08-02
Diantha La Vine
 FACS CD44+ CD8 T cells - increased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 pigmentation
 skin/coat/nails
28 UTSW Lyst 0.466 Swallow 13 13590397-13778803 bp (+) 13757422 Autosomal Semidominant (2;11) 2018-08-02
Diantha La Vine
 125-03 Response - decreased
 phagocytosis in PECs - increased
29 UTSW Lyst 0.466 lightspeed 13 13590397-13778803 bp (+) 13740536 Autosomal Recessive (1;5) 2018-08-02
Diantha La Vine
 MCMV susceptibility
30 UTSW
has photo
Slc45a2 0.154 cheng 15 11000721-11029233 bp (+) 11025868 Unknown (1;0) 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
31 UTSW
has photo
Slc45a2 0.154 june_gloom 15 11000721-11029233 bp (+) 11023443 Unknown 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
32 UTSW Slc45a2 0.154 grey_goose 15 11000721-11029233 bp (+) 11002981 Unknown 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
33 UTSW Nlrp1a 0.182 watermelon 11 71092236-71144704 bp (-) 71122705 Autosomal Recessive (21;129) 2018-07-27
Anne Murray
 Body Weight - decreased
 Body Weight (Male) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS CD4:CD8 - increased
 FACS CD8+ T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS NK cells - decreased
 FACS T cells - decreased
 OVA-specific IgE - increased
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
 total IgE level - increased
34 UTSW Pax5 1.000 k2 4 44524757-44710487 bp (-) 44697630 Autosomal Recessive (1;4)
 Autosomal Semidominant (1;4)
2018-07-18
Anne Murray
 FACS B220 MFI - decreased
 FACS IgD MFI - decreased
35 UTSW Pax5 1.000 Glacier3 4 44524757-44710487 bp (-) 44679526 Autosomal Dominant (1;4) 2018-07-18
Anne Murray
 FACS IgD MFI - decreased
36 UTSW Prkdc 0.976 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
37 UTSW Dclre1c 0.655 Chairy 2 3424131-3464130 bp (+) 3452863 Autosomal Dominant (1;4)
 Autosomal Recessive (3;14)

 Autosomal Semidominant (4;16)
2018-06-15
Anne Murray
 Body Weight - 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
 FACS T cells - decreased
38 UTSW
has video
Esrp1 0.320 triaka 4 11331933-11386783 bp (-) 11379300 Unknown (1;0) 2018-05-22
Anne Murray
 behavior/neurological
 hearing/vestibular/ear
39 UTSW
has video
Agtpbp1 0.614 rio 13 59445742-59585227 bp (-) 59525241 Unknown 2018-05-22
Anne Murray
 behavior/neurological
 growth/size
40 UTSW Kcnn2 0.283 jitter 18 45268860-45686024 bp (+) 45561253 Unknown 2018-05-22
Anne Murray
 behavior/neurological
41 UTSW Cd40lg walla X 57212143-57224042 bp (+) 57223465 Unknown (2;0) 2018-05-17
Anne Murray
42 UTSW Ltbr 0.117 marine_blue 6 125306571-125313885 bp (-) 125312808 Autosomal Recessive (8;71)
 Autosomal Semidominant (6;30)
2018-04-19
Jin Huk Choi
 CTL killing - increased
 CTL killing dominant epitope - increased
 FACS B cells - increased
 FACS B:T cells - increased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD44+ CD4 MFI - decreased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - decreased
 FACS CD8+ T cells - decreased
 FACS NK cells - decreased
 FACS NK T cells - decreased
 NK cell response - decreased
 NK killing - decreased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
43 UTSW Socs7 0.479 Dunn 11 97362551-97398542 bp (+) 97373124 Autosomal Dominant (2;8) 2018-04-11
Anne Murray
 Body Weight - decreased
 Body Weight (DSS) - decreased
44 UTSW Ptpn6 0.477 candle 6 124720707-124738714 bp (-) 124728419 Autosomal Recessive (7;48)
 Autosomal Semidominant (3;14)
2018-04-06
Diantha La Vine
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - increased
 FACS B2 cells - decreased
 FACS CD11c+ DCs - increased
 FACS CD44+ CD8 MFI - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
45 UTSW Ptpn6 0.477 farfalla_notturna 6 124720707-124738714 bp (-) 124732435 Autosomal Recessive (11;94) 2018-04-06
Diantha La Vine
 FACS B cells - decreased
 FACS B1 cells - increased
 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 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
46 UTSW
has photo
Oca2 0.236 hardy 7 56239760-56536518 bp (+) 56295460 Autosomal Recessive (2;10) 2018-04-04
Emre Turer
 DSS: sensitive day 7
 pigmentation
 skin/coat/nails
47 UTSW Prkdc 0.976 Screamer8 16 15637866-15842235 bp (+) 15719433 Autosomal Dominant (3;14)
 Autosomal Semidominant (3;12)
2018-03-28
Diantha La Vine
 post-MCMV FACS B cells - increased
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
 post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS IgD+ B cell percentage - increased
 post-MCMV FACS IgM+ B cells - increased
48 UTSW Prkdc 0.976 screamer3 16 15637866-15842235 bp (+) 15740332 Autosomal Recessive (3;15) 2018-03-28
Diantha La Vine
 FACS B cells - decreased
 FACS B1b cells - increased
 FACS neutrophils - increased
49 UTSW Prkdc 0.976 screamer2 16 15637866-15842235 bp (+) 15652552 Autosomal Recessive (5;51)
 Autosomal Semidominant (1;4)
2018-03-28
Diantha La Vine
 Body Weight - decreased
 Body Weight (DSS) - decreased
 FACS IgD MFI - 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
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
50 UTSW
has photo
Tmprss6 0.138 mask 15 78439667-78468634 bp (-) 78464455 Unknown 2018-03-06
Diantha La Vine
 embryogenesis
 growth/size
 hematopoietic system
 homeostasis/metabolism
 iron deficiency
 reproductive system
 skin/coat/nails
51 UTSW Hcfc2 0.220 feckless 10 82696160-82742428 bp (+) 82712061 Unknown (2;0) 2018-03-06
Diantha La Vine
 immune system
 MCMV susceptibility
 TLR signaling defect: TNF production by macrophages
52 UTSW Vldlr 0.339 spotty 19 27216484-27254231 bp (+) 27238792 Unknown 2018-02-22
Anne Murray
 vision/eye
53 UTSW Rac2 0.110 Potter2 15 78559167-78572783 bp (-) 78565454 Autosomal Dominant (7;93)
 Autosomal Recessive (6;57)

 Autosomal Semidominant (12;249)
2018-02-02
Anne Murray
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 FACS B:T cells - increased
 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+ 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 IgD MFI - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
 NK cell response - decreased
 NK killing - 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
 Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
54 UTSW Ticam2 0.000 Consequential 18 46559155-46574533 bp (-) 46560779 Unknown 2018-01-31
Anne Murray
55 UTSW Card11 0.000 Tumnus 5 140872990-141000582 bp (-) 140885945 Autosomal Semidominant (3;16) 2018-01-30
Anne Murray
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - increased
 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
56 UTSW Card11 0.000 Dealer 5 140872990-141000582 bp (-) 140885877 Autosomal Semidominant (3;15) 2018-01-30
Anne Murray
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
57 UTSW Irak4 0.641 otiose 15 94543643-94581815 bp (+) 94561484 Unknown (2;0) 2018-01-23
Anne Murray
 125-03 Response - increased
 immune system
 response to injected CpG DNA - decreased
 TLR signaling defect: TNF production by macrophages
 TLR signaling defect: type I IFN production by macrophages
58 UTSW Lck 0.000 stromberg 4 129548344-129573641 bp (-) 129555640 Autosomal Recessive (12;133) 2018-01-03
External Program
 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+ 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 - 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
59 UTSW Nlrp3 0.050 Nd7 11 59541568-59566956 bp (+) 59555875 Unknown 2017-12-19
Anne Murray
 immune system
 NALP3 inflammasome signaling defect
60 UTSW Rac2 0.110 bingo 15 78559167-78572783 bp (-) 78564968 Autosomal Recessive (1;6) 2017-12-19
Anne Murray
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
61 UTSW Muc2 0.073 nomoco 7 141690340-141754693 bp (+) 141753719 Autosomal Recessive (2;15) 2017-10-12
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
62 UTSW Cacna2d2 0.795 hera 9 107399612-107529343 bp (+) 107513280 Autosomal Recessive (2;15) 2017-09-13
Diantha La Vine
 Body Weight - decreased
 Body Weight (Male) - decreased
 growth/size
63 APN Muc2 0.073 Eeyore 7 141690340-141754693 bp (+) 141693356 Unknown 2017-09-13
Diantha La Vine
 immune system
64 UTSW Card11 0.000 hubei 5 140872990-141000582 bp (-) 140906767 Autosomal Recessive (1;7) 2017-09-08
Diantha La Vine
 FACS B1a cells - increased
65 UTSW Cd40 0.000 noelle 2 165055627-165072948 bp (+) 165063563 Autosomal Dominant (1;4)
 Autosomal Recessive (3;35)

 Autosomal Semidominant (1;4)
2017-08-30
Anne Murray
 FACS effector memory CD4 T cells in CD4 T cells - decreased
 FACS effector memory 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
 total IgE level - decreased
66 UTSW Zap70 0.296 mesa_verde 1 36761798-36782818 bp (+) 36779173 Autosomal Recessive (7;29) 2017-08-08
Diantha La Vine
 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
 FACS naive CD8 T cells in CD8 T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
67 UTSW Zap70 0.296 wanna2 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
68 APN Zap70 0.296 mrtless 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
69 UTSW Cd40 0.000 bluebonnet 2 165055627-165072948 bp (+) 165062301 Autosomal Recessive (2;12)
 Autosomal Semidominant (1;3)
2017-06-23
Katherine Timer
 OVA-specific IgE - increased
 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
70 UTSW Myd88 0.000 lackadaisical 9 119335934-119341411 bp (-) 119338692 Unknown (1;0) 2017-06-14
Katherine Timer
 immune system
 TLR signaling defect: TNF production by macrophages
 TLR signaling defect: type I IFN production by macrophages
71 UTSW Irf7 0.000 inept 7 141262706-141266481 bp (-) 141265140 Unknown (1;0) 2017-06-07
Katherine Timer
 response to injected CpG DNA - decreased
 TLR signaling defect: type I IFN production by pDC
72 UTSW Irf4 0.369 Honey2 13 30749226-30766976 bp (+) 30761490 Autosomal Dominant (1;7)
 Autosomal Recessive (1;13)

 Autosomal Semidominant (1;9)
2017-05-12
Anne Murray
 FACS B1 cells - increased
 FACS IgM MFI - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
73 UTSW
has photo
Lfng 0.655 zigzag 5 140607320-140615545 bp (+) 140612535 Unknown 2017-05-02
Katherine Timer
 immune system
 limbs/digits/tail phenotype
 skeleton phenotype
74 UTSW Sgk3 0.275 woolly 1 9798107-9900845 bp (+) 9886104 Unknown 2017-04-11
Katherine Timer
 skin/coat/nails
75 UTSW Irf9 0.201 Long_lost 14 55603571-55610030 bp (+) 55605910 Autosomal Recessive (2;11)
 Autosomal Semidominant (3;16)
2017-04-06
Katherine Timer
 dsDNA induced type I IFN production - increased
 IgE response to a Cysteine Protease (Papain) - decreased
 impaired response to dsDNA- type I IFN production by macrophages
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
76 UTSW Klc1 0.504 dwarf 12 111758849-111807844 bp (+) 111795603 Autosomal Recessive (2;13)
 Autosomal Semidominant (1;4)
2017-03-31
Anne Murray
 Body Weight - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (DSS Male) - decreased
 Body Weight (DSS) - decreased
77 UTSW Ikbkg panr2 X 74393290-74453854 bp (+) 74437222 Unknown (2;0) 2017-03-28
Katherine Timer
 immune system
 MCMV susceptibility
 T-dependent humoral response defect- decreased antibody response to rSFV
 TLR signaling defect: TNF production by macrophages
78 UTSW Gatm 0.000 mrbig 2 122594467-122611303 bp (-) 122600744 Autosomal Recessive (3;23) 2017-03-16
Katherine Timer
 Body Weight - decreased
 Body Weight (Male) - decreased
 DSS: sensitive day 7
79 UTSW Nlrp3 0.050 Nd5 11 59541568-59566956 bp (+) 59565879 Unknown (1;0) 2017-03-02
Katherine Timer
 immune system
 NALP3 inflammasome signaling defect
80 UTSW
has video
Myo15 0.000 parker 11 60469339-60528369 bp (+) 60520914 Unknown 2017-03-02
Katherine Timer
81 UTSW Ighd 0.084 Surface 12 113406604-113416324 bp (-) 113416199 Autosomal Recessive (1;4) 2017-01-31
Anne Murray
 FACS IgD MFI - decreased
82 UTSW Tlr4 0.000 don_knotts 4 66827584-66930284 bp (+) 66841172 Unknown (1;0)
 Autosomal Recessive (4;20)
2016-12-09
Katherine Timer
 FACS B cells - decreased
 FACS B220 MFI - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
83 UTSW Tnfsf13b 0.208 Applecrisp 8 10006467-10039072 bp (+) 10031534 Autosomal Recessive (1;1)
 Autosomal Semidominant (1;5)
2016-12-08
Katherine Timer
 FACS B:T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
84 UTSW
has photo
Rab27a 0.360 geodude 9 73044854-73097629 bp (+) 73084981 Autosomal Recessive (2;5) 2016-12-07
Anne Murray
 MCMV susceptibility
 pigmentation
 skin/coat/nails
85 UTSW Rorc 0.622 chestnut 3 94372794-94398276 bp (+) 94377609 Autosomal Recessive (4;22)
 Autosomal Semidominant (3;14)
2016-12-07
Anne Murray
 Body Weight (Male) - increased
 FACS B:T cells - increased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 FACS NK cells - increased
 FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
86 UTSW
has photo
Mlph 0.121 beau 1 90915085-90951142 bp (+) 90928122 Unknown 2016-12-07
Anne Murray
87 UTSW
has photo
Mbtps1 1.000 woodrat 8 119508156-119558735 bp (-) 119529030 Unknown (1;0) 2016-11-10
Anne Murray
 DSS: sensitive day 7
 embryogenesis
 homeostasis/metabolism
 immune system
 lethality-embryonic/perinatal
 pigmentation
 reproductive system
 skin/coat/nails
88 UTSW Ifngr1 0.000 marigold 10 19591949-19610229 bp (+) 19601485 Autosomal Dominant (4;16)
 Autosomal Recessive (3;22)
2016-09-27
Anne Murray
 FACS B cells - increased
 FACS IgD+ B cell percentage - increased
 FACS IgM+ B cells - increased
 FACS macrophages - decreased
 TLR signaling defect: hyposensitivity to poly I:C + IFNg
 TLR signaling defect: TNF production by macrophages
89 UTSW Mlkl 0.094 necro 8 111311797-111338177 bp (-) 111312100 Autosomal Recessive (2;34) 2016-09-16
Katherine Timer
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
90 UTSW
has photo
Tyr 0.346 waffle 7 87424771-87493512 bp (-) 87493221 Autosomal Recessive (1;3) 2016-07-13
Anne Murray
 pigmentation
 skin/coat/nails
91 UTSW Klrb1c 0.045 Unnatural 6 128778485-128789215 bp (-) 128784211 Unknown 2016-05-13
Stephen Lyon
 FACS NK cells - decreased
 hematopoietic system
 immune system
92 APN Prkcb 0.000 Tilcara 7 122288751-122634402 bp (+) 122595005 Unknown 2016-05-13
Peter Jurek
 immune system
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
93 UTSW Atp4a 0.133 sublytic 7 30712209-30725534 bp (+) 30715800 Unknown 2016-05-13
Stephen Lyon
 hematopoietic system
94 UTSW
has photo
Tyr 0.346 siamese 7 87424771-87493512 bp (-) 87438044 Unknown 2016-05-13
Peter Jurek
 pigmentation
 skin/coat/nails
95 UTSW
has photo
Egfr 0.891 set 11 16752203-16918158 bp (+) 16871881 Autosomal Recessive (2;8) 2016-05-13
Anne Murray
 30 min GTT hypoglycemic (male)
 skin/coat/nails
96 UTSW Zbtb1 0.647 scant 12 76370266-76396950 bp (+) 76385461 Unknown 2016-05-13
Stephen Lyon
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
97 APN Dock8 0.178 primurus 19 24999529-25202432 bp (+) 25183609 Unknown 2016-05-13
Peter Jurek
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 immune system
98 UTSW
has video
Scn10a 0.322 Possum 9 119608456-119719322 bp (-) 119638705 Unknown 2016-05-13
Stephen Lyon
 behavior/neurological
 nervous system
99 UTSW
has photo
Sox10 1.000 Kat 15 79154908-79165240 bp (-) 79163319 Unknown (1;0) 2016-05-13
Anne Murray
 pigmentation
 skin/coat/nails
100 UTSW Tfr2 0.000 iron-man 5 137569840-137587481 bp (+) 137583153 Unknown 2016-05-13
Stephen Lyon
 homeostasis/metabolism
 iron excess
[records 1 to 100 of 116]