Phenotypic Mutations

121 mutations affecting 93 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 121] per page Full List
 
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Phenotypic Category question?

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1 UTSW Elmo1 0.000 13 20090596-20608353 bp (+) 20373161 Autosomal Dominant (1;6)
 Autosomal Recessive (2;11)
2019-01-07
Anne Murray
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS NK cells - decreased
2 UTSW Smcr8 0.000 11 60777524-60788287 bp (+) 60778032 Autosomal Recessive (7;38)
 Autosomal Semidominant (1;6)
2019-01-07
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1a cells in B1 cells - increased
 FACS B220 MFI - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 TLR signaling defect: hypersensitivity to CpG + IFNg
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
 total IgE level - increased
3 UTSW Fas 0.091 19 34290659-34327770 bp (+) 34327140 Autosomal Recessive (7;38) 2019-01-07
Diantha La Vine
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
 post-MCMV FACS B1a cells - increased
 post-MCMV FACS B1b cells - increased
 post-MCMV FACS CD44+ CD8 MFI - increased
4 UTSW Adra2a 0.000 19 54045182-54048982 bp (+) 54046639 Autosomal Recessive (4;19)
 Autosomal Semidominant (2;7)
2018-12-19
Anne Murray
 30 min GTT hypoglycemic
 30 min GTT hypoglycemic (female)
 30 min GTT hypoglycemic (male)
 30 Min. Insulin (Female) - increased
5 UTSW Lig4 1.000 8 9969049-9977686 bp (-) 9972955 Autosomal Recessive (16;134)
 Autosomal Semidominant (2;8)
2018-12-18
Anne Murray
 FACS B 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+ 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 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 naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
6 UTSW Lig4 1.000 8 9969049-9977686 bp (-) 9971585 Autosomal Recessive (3;17) 2018-12-18
Anne Murray
 FACS B 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+ 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 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 naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
7 UTSW Tlr9 0.111 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
8 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85619712 Autosomal Recessive (1;5) 2018-12-07
Diantha La Vine
 Body Weight - increased
 Body Weight (BP Female) - increased
9 UTSW Zfp318 0.000 17 46383731-46420920 bp (+) 46409692 Autosomal Semidominant (4;24) 2018-12-06
Anne Murray
 post-MCMV FACS B1b cells - decreased
 post-MCMV FACS B2 cells - increased
 post-MCMV FACS IgD MFI - decreased
10 UTSW Irf8 0.000 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
11 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34708793 Autosomal Recessive (3;14) 2018-11-29
Diantha La Vine
 FACS B1b cells in B1 cells - increased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
12 UTSW Il4ra 0.056 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
13 UTSW Gsdmd 0.000 15 75862327-75867408 bp (+) 75864357 Autosomal Recessive (1;9) 2018-11-16
Anne Murray
 Nlrc4 inflammasome: low response
14 UTSW Rho 0.155 6 115931748-115940036 bp (+) 115935131 Unknown 2018-11-01
Diantha La Vine
 vision/eye
15 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
16 UTSW Ebf1 0.929 11 44617317-45008091 bp (+) 44869169 Autosomal Recessive (8;69)
 Autosomal Semidominant (1;4)
2018-10-26
Anne Murray
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - increased
 FACS B1b cells - increased
 FACS B1b cells in B1 cells - decreased
 FACS B2 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
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
17 UTSW Prkcb 0.000 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
18 UTSW
has photo
Fgf3 0.660 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
19 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
20 UTSW Galc 0.000 12 98202294-98259459 bp (-) 98234266 Autosomal Semidominant (1;7) 2018-10-02
Diantha La Vine
 Body Weight - decreased
21 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
22 UTSW Gk5 0.000 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive (4;22)
 Autosomal Semidominant (1;4)
2018-09-24
Anne Murray
 DSS: sensitive day 7
 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
23 UTSW Asf1b 0.000 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
24 UTSW Nlrp1a 0.182 11 71092236-71144704 bp (-) 71113640 Autosomal Recessive (11;58) 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
 Nlrc4 inflammasome: high response
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 Tnfrsf9 0.108 4 150914562-150946102 bp (+) 150929874 Autosomal Recessive (6;29) 2018-09-07
Anne Murray
 FACS B cells - increased
 FACS B:T cells - increased
 FACS CD8+ T cells - decreased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - increased
 FACS IgM+ B cells - increased
27 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
28 UTSW Gys2 0.494 6 142422613-142473109 bp (-) 142456333 Autosomal Recessive (1;4) 2018-08-29
Anne Murray
 30 min GTT hyperglycemic
29 UTSW Dck 0.000 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
30 UTSW Tnfrsf13c 0.100 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
31 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
32 UTSW
has photo
Kitl 0.579 10 100015630-100100416 bp (+) 100088222 Autosomal Recessive (1;4) 2018-08-06
Anne Murray
 pigmentation
 skin/coat/nails
33 UTSW
has photo
Lyst 0.466 13 13590397-13778803 bp (+) 13696794 Autosomal Recessive (5;18) 2018-08-02
Diantha La Vine
 FACS CD44+ CD8 T cells - increased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 pigmentation
 skin/coat/nails
34 UTSW Lyst 0.466 13 13590397-13778803 bp (+) 13757422 Autosomal Semidominant (2;11) 2018-08-02
Diantha La Vine
 125-03 Response - decreased
 phagocytosis in PECs - increased
35 UTSW Lyst 0.466 13 13590397-13778803 bp (+) 13740536 Autosomal Recessive (1;5) 2018-08-02
Diantha La Vine
 MCMV susceptibility
36 UTSW
has photo
Slc45a2 0.154 15 11000721-11029233 bp (+) 11025868 Unknown (1;0) 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
37 UTSW
has photo
Slc45a2 0.154 15 11000721-11029233 bp (+) 11023443 Unknown 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
38 UTSW Slc45a2 0.154 15 11000721-11029233 bp (+) 11002981 Unknown 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
39 UTSW Nlrp1a 0.182 11 71092236-71144704 bp (-) 71122705 Autosomal Recessive (12;65) 2018-07-27
Anne Murray
 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 naive CD4 T cells in CD4 T 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
40 UTSW Pax5 1.000 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
41 UTSW Pax5 1.000 4 44524757-44710487 bp (-) 44679526 Autosomal Dominant (1;4) 2018-07-18
Anne Murray
 FACS IgD MFI - decreased
42 UTSW Prkdc 0.976 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
43 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
44 UTSW
has video
Esrp1 0.320 4 11331933-11386783 bp (-) 11379300 Unknown (1;0) 2018-05-22
Anne Murray
 behavior/neurological
 hearing/vestibular/ear
45 UTSW
has video
Agtpbp1 0.614 13 59445742-59585227 bp (-) 59525241 Unknown 2018-05-22
Anne Murray
 behavior/neurological
 growth/size
46 UTSW Kcnn2 0.283 18 45268860-45686024 bp (+) 45561253 Unknown 2018-05-22
Anne Murray
 behavior/neurological
47 UTSW Cd40lg X 57212143-57224042 bp (+) 57223465 Unknown (2;0) 2018-05-17
Anne Murray
48 UTSW Ltbr 0.117 6 125306571-125313885 bp (-) 125312808 Autosomal Recessive (8;71)
 Autosomal Semidominant (5;26)
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
 NK cell response - decreased
 NK killing - decreased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
49 UTSW Socs7 0.479 11 97362551-97398542 bp (+) 97373124 Autosomal Dominant (2;8) 2018-04-11
Anne Murray
 Body Weight - decreased
 Body Weight (DSS) - decreased
50 UTSW Ptpn6 0.477 6 124720707-124738714 bp (-) 124728419 Autosomal Recessive (6;44)
 Autosomal Semidominant (2;9)
2018-04-06
Diantha La Vine
 FACS B cells - decreased
 FACS B1a 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
51 UTSW Ptpn6 0.477 6 124720707-124738714 bp (-) 124732435 Autosomal Recessive (12;99) 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 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 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
52 UTSW
has photo
Oca2 0.236 7 56239760-56536518 bp (+) 56295460 Autosomal Recessive (2;10) 2018-04-04
Emre Turer
 DSS: sensitive day 7
 pigmentation
 skin/coat/nails
53 UTSW Prkdc 0.976 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
54 UTSW Prkdc 0.976 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
55 UTSW Prkdc 0.976 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
56 UTSW
has photo
Tmprss6 0.138 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
57 UTSW Hcfc2 0.220 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
58 UTSW Vldlr 0.339 19 27216484-27254231 bp (+) 27238792 Autosomal Recessive (4;33) 2018-02-22
Anne Murray
 vision/eye
59 UTSW Rac2 0.110 15 78559167-78572783 bp (-) 78565454 Autosomal Dominant (7;93)
 Autosomal Recessive (6;57)

 Autosomal Semidominant (9;154)
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+ T cells - 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 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
60 UTSW Ticam2 0.000 18 46559155-46574533 bp (-) 46560779 Unknown 2018-01-31
Anne Murray
61 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140885945 Autosomal Semidominant (1;7) 2018-01-30
Anne Murray
 FACS B1 cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
62 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140885877 Unknown 2018-01-30
Anne Murray
63 UTSW Irak4 0.641 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
64 UTSW Lck 0.000 4 129548344-129573641 bp (-) 129555640 Autosomal Recessive (13;138) 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
65 UTSW Nlrp3 0.050 11 59541568-59566956 bp (+) 59555875 Unknown 2017-12-19
Anne Murray
 immune system
 NALP3 inflammasome signaling defect
66 UTSW Rac2 0.110 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
67 UTSW Muc2 0.073 7 141690340-141754693 bp (+) 141753719 Autosomal Recessive (2;15) 2017-10-12
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
68 UTSW Cacna2d2 0.795 9 107399612-107529343 bp (+) 107513280 Autosomal Recessive (2;15) 2017-09-13
Diantha La Vine
 Body Weight - decreased
 Body Weight (Male) - decreased
 growth/size
69 APN Muc2 0.073 7 141690340-141754693 bp (+) 141693356 Unknown 2017-09-13
Diantha La Vine
 immune system
70 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140906767 Autosomal Recessive (1;7) 2017-09-08
Diantha La Vine
 FACS B1a cells - increased
71 UTSW Cd40 0.000 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
72 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
73 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
74 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
75 UTSW Cd40 0.000 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
76 UTSW Myd88 0.000 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
77 UTSW Irf7 0.000 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
78 UTSW Irf4 0.369 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
79 UTSW
has photo
Lfng 0.655 5 140607320-140615545 bp (+) 140612535 Unknown 2017-05-02
Katherine Timer
 immune system
 limbs/digits/tail phenotype
 skeleton phenotype
80 UTSW Sgk3 0.275 1 9798107-9900845 bp (+) 9886104 Unknown 2017-04-11
Katherine Timer
 skin/coat/nails
81 UTSW Irf9 0.201 14 55603571-55610030 bp (+) 55605910 Autosomal Recessive (3;15)
 Autosomal Semidominant (4;20)
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
82 UTSW Klc1 0.504 12 111758849-111807844 bp (+) 111795603 Autosomal Dominant (1;4)
 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
 FACS B1b cells - decreased
83 UTSW Ikbkg 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
84 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
85 UTSW Nlrp3 0.050 11 59541568-59566956 bp (+) 59565879 Unknown (1;0) 2017-03-02
Katherine Timer
 immune system
 NALP3 inflammasome signaling defect
86 UTSW
has video
Myo15 0.000 11 60469339-60528369 bp (+) 60520914 Autosomal Recessive (1;4) 2017-03-02
Katherine Timer
 behavior/neurological
 hearing/vestibular/ear
87 UTSW Ighd 0.084 12 113406604-113416324 bp (-) 113416199 Unknown 2017-01-31
Anne Murray
88 UTSW Tlr4 0.000 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
89 UTSW Tnfsf13b 0.208 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
90 UTSW
has photo
Rab27a 0.360 9 73044854-73097629 bp (+) 73084981 Autosomal Recessive (2;5) 2016-12-07
Anne Murray
 MCMV susceptibility
 pigmentation
 skin/coat/nails
91 UTSW Rorc 0.622 3 94372794-94398276 bp (+) 94377609 Autosomal Recessive (3;18)
 Autosomal Semidominant (1;5)
2016-12-07
Anne Murray
 Body Weight (Male) - increased
 FACS B:T cells - increased
 FACS CD4+ T cells - decreased
 FACS NK cells - increased
92 UTSW
has photo
Mlph 0.121 1 90915085-90951142 bp (+) 90928122 Autosomal Recessive (1;4) 2016-12-07
Anne Murray
 pigmentation
 skin/coat/nails
93 UTSW
has photo
Mbtps1 1.000 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
94 UTSW Ifngr1 0.000 10 19591949-19610229 bp (+) 19601485 Autosomal Dominant (3;12)
 Autosomal Recessive (3;22)
2016-09-27
Anne Murray
 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
95 UTSW Mlkl 0.094 8 111311797-111338177 bp (-) 111312100 Autosomal Recessive (2;34) 2016-09-16
Katherine Timer
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
96 UTSW
has photo
Tyr 0.346 7 87424771-87493512 bp (-) 87493221 Autosomal Recessive (1;3) 2016-07-13
Anne Murray
 pigmentation
 skin/coat/nails
97 UTSW Klrb1c 0.045 6 128778485-128789215 bp (-) 128784211 Unknown 2016-05-13
Stephen Lyon
 FACS NK cells - decreased
 hematopoietic system
 immune system
98 APN Prkcb 0.000 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
99 UTSW Atp4a 0.133 7 30712209-30725534 bp (+) 30715800 Unknown 2016-05-13
Stephen Lyon
 hematopoietic system
100 UTSW
has photo
Tyr 0.346 7 87424771-87493512 bp (-) 87438044 Unknown 2016-05-13
Peter Jurek
 pigmentation
 skin/coat/nails
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