Phenotypic Mutations

408 mutations affecting 245 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 408] per page Full List Export
 
Source question?
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Gene 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 Adra2a 0.000 splenda2 19 54045182-54048982 bp (+) 54046639 Autosomal Recessive (3;15) 2018-12-19
Anne Murray
 30 min GTT hypoglycemic
 30 min GTT hypoglycemic (female)
2 UTSW Adra2a 0.000 splenda 19 54045182-54048982 bp (+) 54046495 Autosomal Recessive (7;39)
 Autosomal Semidominant (3;15)
2018-12-19
Anne Murray
 30 min GTT hypoglycemic
 30 min GTT hypoglycemic (female)
 30 min GTT hypoglycemic (male)
 30 Min. Insulin - increased
 30 Min. Insulin (Male) - increased
 Body Weight (Female) - decreased
 Fasting Insulin (Male) - increased
3 UTSW Klhl6 0.082 Parula 16 19946496-19983037 bp (-) 19957043 Autosomal Semidominant (4;25) 2018-12-18
Anne Murray
 FACS B1a cells - increased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS T cells - increased
4 UTSW
has video
Wdr81 1.000 jello 11 75440944-75454717 bp (-) 75441812 Autosomal Recessive (2;11) 2018-12-18
Anne Murray
 Body Weight - decreased
 Body Weight (DSS) - decreased
 Body Weight (Male) - decreased
5 UTSW Fbp1 0.378 fruko 13 62864753-62888282 bp (-) 62875261 Autosomal Recessive (4;32) 2018-12-18
Anne Murray
 fasting hypoglycemia
 fasting hypoglycemia (female)
6 UTSW Lig4 1.000 posey 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
7 UTSW Lig4 1.000 posey2 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
8 UTSW
has photo
Lepr 0.000 fluffy 4 101717404-101815352 bp (+) 101792023 Autosomal Recessive (40;511)
 Autosomal Semidominant (1;4)
2018-12-18
Anne Murray
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 3 - decreased
 Blood Pressure: SBP Average - decreased
 Blood Pressure: SBP Day 1 - decreased
 Blood Pressure: SBP Day 3 - decreased
 Body Weight - increased
 Body Weight (BP Female) - increased
 Body Weight (BP Male) - increased
 Body Weight (BP) - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 Bone: Liver Fat - increased
 Bone: Liver Fat (female) - increased
 Bone: Liver Fat (male) - increased
 Bone: Liver Fat (normalized) - decreased
 Bone: Liver Fat (normalized, female) - decreased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 growth/size
9 UTSW Irf1 0.000 Longs_peak 11 53770014-53778374 bp (+) 53775936 Autosomal Semidominant (3;18) 2018-12-18
Anne Murray
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
10 UTSW Irf1 0.000 endeka2 11 53770014-53778374 bp (+) 53771322 Autosomal Recessive (5;48)
 Autosomal Semidominant (2;14)
2018-12-18
Anne Murray
 FACS B1 cells - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS NK cells - decreased
11 UTSW Irf1 0.000 endeka 11 53770014-53778374 bp (+) 53772891 Unknown (2;0) 2018-12-17
Diantha La Vine
 FACS CD8+ T cells - decreased
 FACS NK cells - decreased
 FACS NK T cells - decreased
 hematopoietic system
 immune system
 MCMV susceptibility
 NK cell response - decreased
 TLR signaling defect: type I IFN production by macrophages
12 UTSW Ryr2 1.000 arruda2 13 11553102-12106945 bp (-) 11879496 Autosomal Dominant (1;4)
 Autosomal Recessive (14;60)

 Autosomal Semidominant (3;23)
2018-12-14
Anne Murray
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 2 - decreased
 Blood Pressure: HR Day 3 - decreased
13 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
14 UTSW Tlr7 0.129 rsq1 X 167304929-167330558 bp (-) 167308286 Unknown (1;0) 2018-12-14
Diantha La Vine
 immune system
 TLR signaling defect: TNF production by macrophages
 TLR signaling defect: type I IFN production by macrophages
15 UTSW Tlr6 0.192 insouciant 5 64952031-64960097 bp (-) 64954583 Unknown (1;0) 2018-12-14
Diantha La Vine
 immune system
 TLR signaling defect: TNF production by macrophages
16 UTSW Tlr2 0.000 languid 3 83836272-83841767 bp (-) 83837315 Unknown (1;0) 2018-12-14
Diantha La Vine
 immune system
 TLR signaling defect: TNF production by macrophages
17 UTSW Tlr4 0.000 lps3 4 66827584-66930284 bp (+) 66841097 Unknown (1;0) 2018-12-14
Diantha La Vine
 immune system
 TLR signaling defect: TNF production by macrophages
 TLR signaling defect: type I IFN production by macrophages
18 UTSW Gimap1 0.055 vonnegut 6 48739054-48743795 bp (+) 48743098 Autosomal Recessive (11;79) 2018-12-12
Anne Murray
 FACS B cells - decreased
 FACS B1 cells - decreased
 FACS B220 MFI - decreased
 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
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
19 UTSW
has photo
Mc4r 0.062 southbeach 18 66857715-66860472 bp (-) 66859142 Unknown 2018-12-10
Diantha La Vine
 adipose tissue
 growth/size
20 UTSW Klhl6 0.082 blossom 16 19946496-19983037 bp (-) 19957139 Autosomal Recessive (4;26) 2018-12-10
Anne Murray
 FACS B:T cells - decreased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS T cells - increased
21 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
22 UTSW
has video
Hcn2 0.542 curveball 10 79716634-79736108 bp (+) 79724786 Autosomal Recessive (7;38) 2018-12-07
Diantha La Vine
 behavior/neurological
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
23 UTSW
has video
Cacna1a 0.712 totter 8 84388440-84640246 bp (+) 84588753 Autosomal Recessive (5;22) 2018-12-06
Anne Murray
 behavior/neurological
24 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
25 UTSW
has photo
Sema4c 1.000 swirl 1 36548639-36558349 bp (-) 36550311 Autosomal Recessive (1;3) 2018-12-05
Anne Murray
 pigmentation
 skin/coat/nails
26 UTSW Tcf12 1.000 Poorly2 9 71842688-72111871 bp (-) 71858929 Autosomal Semidominant (5;36) 2018-12-05
Anne Murray
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
27 UTSW Ebf1 0.929 Catastrophic 11 44617317-45008091 bp (+) 44883885 Autosomal Dominant (7;83) 2018-12-04
Anne Murray
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS CD4+ T cells - increased
 FACS T cells - increased
28 UTSW Cd3e 0.000 cadence 9 44998740-45009627 bp (-) 45001128 Autosomal Recessive (7;54) 2018-11-30
Anne Murray
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
29 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
30 UTSW Dock2 0.000 wassup 11 34226815-34783892 bp (-) 34503413 Autosomal Dominant (1;5)
 Autosomal Recessive (6;56)

 Autosomal Semidominant (4;54)
2018-11-30
Anne Murray
 FACS B cells - decreased
 FACS 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 - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 FACS T cells - decreased
31 UTSW Dock2 0.000 Arches 11 34226815-34783892 bp (-) 34689760 Autosomal Recessive (2;10)
 Autosomal Semidominant (3;18)
2018-11-29
Diantha La Vine
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
32 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
33 UTSW
has photo
Dsg4 0.608 burrito 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive (1;5) 2018-11-29
Anne Murray
 skin/coat/nails
34 UTSW Ikbkb 1.000 Impaired 8 22659212-22706589 bp (-) 22666020 Autosomal Recessive (2;8)
 Autosomal Semidominant (5;21)
2018-11-20
Bruce Beutler
 IgG1 response to a Cysteine Protease (Papain) - decreased
 MCMV susceptibility
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
 post-MCMV FACS CD44+ CD4 MFI - decreased
 post-MCMV FACS CD44+ CD8 MFI - decreased
 post-MCMV FACS CD44+ CD8 T cells - decreased
 post-MCMV FACS CD44+ T MFI - decreased
 post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS effector memory CD8 T cells in CD8 T cells - decreased
 TLR signaling defect: hyposensitivity to MALP2
35 UTSW
has video
Psap 1.000 twerk 10 60277627-60302597 bp (+) 60300851 Autosomal Dominant (1;1)
 Autosomal Recessive (1;3)
2018-11-16
Anne Murray
 behavior/neurological
 fasting hyperglycemia
36 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
37 UTSW Gsdmd 0.000 gasder 15 75862327-75867408 bp (+) 75864357 Autosomal Recessive (1;9) 2018-11-16
Anne Murray
 Nlrc4 inflammasome: low response
38 UTSW Ticam2 0.000 Branch 18 46559155-46574533 bp (-) 46560651 Autosomal Dominant (2;6)
 Autosomal Semidominant (2;8)
2018-11-15
Anne Murray
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
39 UTSW Ifnar1 0.000 macro-1 16 91485238-91507441 bp (+) 91499885 Unknown (1;0) 2018-11-07
Diantha La Vine
 adenovirus infection of macrophages - increased
 immune system
 influenza proliferation in macrophages - increased
 MCMV proliferation in macrophages - increased
 MCMV susceptibility
 RVFV proliferation in macrophages - increased
40 UTSW Yap1 1.000 Puddel_hunde 9 7931999-8004596 bp (-) 8004284 Autosomal Semidominant (2;10) 2018-11-05
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
41 UTSW Nek8 0.600 nerkkod 11 78166106-78176675 bp (-) 78173059 Autosomal Recessive (24;194) 2018-11-05
Anne Murray
 Blood Pressure: DBP Average - increased
 Blood Pressure: DBP Day 1 - increased
 Blood Pressure: DBP Day 2 - increased
 Blood Pressure: DBP Day 3 - increased
 Blood Pressure: MBP Average - increased
 Blood Pressure: MBP Day 1 - increased
 Blood Pressure: MBP Day 2 - increased
 Blood Pressure: MBP Day 3 - increased
 Blood Pressure: SBP Average - increased
 Blood Pressure: SBP Day 1 - increased
 Blood Pressure: SBP Day 2 - increased
 Blood Pressure: SBP Day 3 - increased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - decreased
 Body Weight (DSS Male) - decreased
 Body Weight (DSS) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS effector memory CD4 T cells in CD4 T cells - decreased
 FACS effector memory CD8 T cells in CD8 T cells - decreased
42 UTSW Rho 0.155 bemr3 6 115931748-115940036 bp (+) 115935131 Unknown 2018-11-01
Diantha La Vine
 vision/eye
43 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
44 UTSW Plcg2 0.000 queen 8 117498291-117635142 bp (+) 117581707 Unknown (1;0) 2018-10-25
Diantha La Vine
 FACS B1 cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS B2 cells - increased
 FACS CD11c+ DCs - increased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - decreased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS IgM MFI - increased
 FACS T cells - decreased
 IgE response to a Cysteine Protease (Papain) - increased
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 NLRP3 inflammasome: high response
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 TLR signaling defect: hypersensitivity to CpG + IFNg
45 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
46 UTSW Lyn 0.000 Lemon 4 3678115-3813122 bp (+) 3746768 Autosomal Recessive (1;5)
 Autosomal Semidominant (3;14)
2018-10-25
Diantha La Vine
 FACS B cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS neutrophils - increased
47 UTSW Cd79a 0.126 crab 7 24897381-24902197 bp (+) 24899175 Unknown (2;0) 2018-10-25
Diantha La Vine
 FACS B cells - decreased
 immune system
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
48 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
49 UTSW Gck 1.000 Tootsie 11 5900820-5950081 bp (-) 5909150 Autosomal Dominant (1;5) 2018-10-25
Anne Murray
50 UTSW Tnfrsf13c 0.100 Tannin 15 82221743-82224369 bp (-) 82224207 Autosomal Dominant (2;8) 2018-10-25
Anne Murray
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
51 UTSW Ikzf1 0.833 Star_lord 11 11685003-11772926 bp (+) 11769448 Autosomal Dominant (13;97) 2018-10-25
Diantha La Vine
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 3 - decreased
 FACS B:T cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 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 naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - increased
52 UTSW Insr 0.938 Patently 8 3122061-3279617 bp (-) 3159475 Autosomal Dominant (1;11) 2018-10-25
Anne Murray
 30 Min. Insulin - increased
 DSS: sensitive day 7
53 UTSW Pparg 1.000 Energy 6 115360951-115490399 bp (+) 115451044 Unknown 2018-10-25
Anne Murray
 growth/size
54 UTSW Insr 0.938 gummi_bear 8 3122061-3279617 bp (-) 3161770 Autosomal Recessive (1;6)
 Autosomal Semidominant (1;2)
2018-10-25
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
55 UTSW Ryr2 1.000 arruda3 13 11553102-12106945 bp (-) 11555448 Autosomal Dominant (1;4) 2018-10-24
Anne Murray
 Blood Pressure: HR Average - decreased
56 UTSW Ryr2 1.000 Arruda 13 11553102-12106945 bp (-) 11643895 Autosomal Semidominant (1;5) 2018-10-24
Anne Murray
 Blood Pressure: HR Average - increased
57 UTSW Myb 0.969 Huang_river 10 21124935-21160984 bp (-) 21152617 Autosomal Semidominant (3;20) 2018-10-23
Diantha La Vine
 FACS B1 cells - decreased
 FACS B1a cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS IgM MFI - increased
 FACS macrophages - decreased
 FACS NK cells - increased
58 UTSW Apbb2 0.000 Dionysis 5 66298703-66618784 bp (-) 66452250 Autosomal Semidominant (1;4) 2018-10-19
Diantha La Vine
 30 min GTT hyperglycemic
 30 min GTT hyperglycemic (male)
59 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
60 UTSW Fgfr4 0.000 Modest 13 55152640-55168759 bp (+) 55166251 Autosomal Semidominant (4;21) 2018-10-16
Diantha La Vine
 Body Weight - decreased
 Body Weight (DSS Male) - decreased
 Body Weight (DSS) - decreased
 FACS B1a cells in B1 cells - decreased
61 UTSW Myo1d 0.270 horton 11 80482126-80780025 bp (-) 80674708 Autosomal Recessive (1;5) 2018-10-11
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
62 UTSW Myo1d 0.270 whisper3 11 80482126-80780025 bp (-) 80557521 Autosomal Recessive (2;9) 2018-10-11
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
63 UTSW Myo1d 0.270 whisper2 11 80482126-80780025 bp (-) 80666578 Autosomal Recessive (2;11) 2018-10-11
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
64 UTSW Myo1d 0.270 whisper 11 80482126-80780025 bp (-) 80484332 Autosomal Dominant (1;2)
 Autosomal Recessive (2;14)
2018-10-11
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS NK T cells - decreased
65 UTSW
has video
Cdh23 0.000 hersey 10 60302748-60696490 bp (-) 60308036 Autosomal Recessive (6;34) 2018-10-11
Anne Murray
 behavior/neurological
 Body Weight - decreased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - decreased
 FACS CD44+ T cells - increased
66 UTSW
has photo
Adamts20 0.239 whopper 15 94270163-94465418 bp (-) 94347810 Autosomal Recessive (1;6) 2018-10-10
Anne Murray
 pigmentation
 skin/coat/nails
67 UTSW Ptprc 0.256 Guotie3 1 138062861-138175708 bp (-) 138078451 Autosomal Recessive (1;4)
 Autosomal Semidominant (3;19)
2018-10-10
Anne Murray
 FACS B1 cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
68 UTSW Ptprc 0.256 Dumpling 1 138062861-138175708 bp (-) 138067890 Autosomal Recessive (1;7)
 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
69 UTSW Ptprc 0.256 Half_measure 1 138062861-138175708 bp (-) 138071249 Autosomal Semidominant (3;13) 2018-10-05
Diantha La Vine
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
70 UTSW Ptprc 0.256 guotie2 1 138062861-138175708 bp (-) 138094299 Autosomal Recessive (18;95)
 Autosomal Semidominant (2;10)
2018-10-05
Diantha La Vine
 DSS: sensitive day 7
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS B220 MFI - decreased
 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 MFI - decreased
 FACS IgM+ B cells - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS T cells - decreased
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: high response
 T-dependent humoral response defect- decreased antibody response to rSFV
71 UTSW
has photo
Adamts20 0.239 Meowth 15 94270163-94465418 bp (-) 94331458 Autosomal Recessive (1;1)
 Autosomal Semidominant (1;4)
2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
 TLR signaling defect: hyposensitivity to PAM3CSK4
 TLR signaling defect: TNF production by macrophages
72 UTSW Adamts20 0.239 buckeye 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
73 UTSW
has photo
Adamts20 0.239 pikachu 15 94270163-94465418 bp (-) 94345990 Autosomal Recessive (1;1) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
74 UTSW
has photo
Adamts20 0.239 nidoking 15 94270163-94465418 bp (-) 94403445 Autosomal Recessive (1;12) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
75 UTSW
has video
Galc 0.000 teeter 12 98202294-98259459 bp (-) 98259162 Autosomal Recessive (5;23)
 Autosomal Semidominant (2;12)
2018-10-05
Anne Murray
 behavior/neurological
 Blood Pressure: DBP Day 1 - increased
 Blood Pressure: DBP Day 3 - increased
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 3 - decreased
 Blood Pressure: MBP Day 1 - increased
 Blood Pressure: MBP Day 3 - increased
 growth/size
76 UTSW Slc9a8 0.000 costello 2 167421712-167477000 bp (+) 167451296 Autosomal Recessive (1;5) 2018-10-04
External Program
 DSS: sensitive day 7
77 UTSW Apbb2 0.000 bund 5 66298703-66618784 bp (-) 66400255 Autosomal Recessive (1;3) 2018-10-04
External Program
 30 min GTT hyperglycemic
 30 min GTT hyperglycemic (male)
78 UTSW Galc 0.000 Crabby2 12 98202294-98259459 bp (-) 98234266 Autosomal Semidominant (1;7) 2018-10-02
Diantha La Vine
 Body Weight - decreased
79 UTSW Ppp3cb 0.000 Redwood 14 20499364-20546573 bp (-) 20509440 Autosomal Semidominant (2;11) 2018-09-24
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 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 CD8 T cells in CD8 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 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
 OVA-specific IgE - increased
 Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
80 UTSW Ppp3cb 0.000 everglades 14 20499364-20546573 bp (-) 20530948 Autosomal Recessive (10;61)
 Autosomal Semidominant (3;15)
2018-09-24
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 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 CD8 T cells in CD8 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 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
 OVA-specific IgE - increased
 Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
81 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
82 UTSW Hr 0.000 angie 14 70552212-70573548 bp (+) 70567833 Autosomal Recessive (5;31) 2018-09-21
Anne Murray
 Body Weight (DSS Male) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - increased
 FACS B1b cells in B1 cells - increased
 FACS B2 cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central 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 macrophages - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS T cells - decreased
 skin/coat/nails
83 UTSW Pi4ka 1.000 pia 16 17280351-17406314 bp (-) 17281044 Autosomal Recessive (4;22)
 Autosomal Semidominant (3;12)
2018-09-21
Anne Murray
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 MTT Value of PECs - decreased
84 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
85 UTSW Cd44 0.344 Jialin 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
86 UTSW
has photo
Edar 0.427 two-tone 10 58600789-58675654 bp (-) 58603179 Autosomal Recessive (1;8)
 Autosomal Semidominant (2;11)
2018-09-12
Anne Murray
 Body Weight (BP Female) - decreased
 Body Weight (Female) - decreased
 pigmentation
 skin/coat/nails
87 UTSW Atm 0.823 mockingbird2 9 53439149-53536740 bp (-) 53488587 Autosomal Recessive (4;34) 2018-09-12
Anne Murray
 FACS B:T cells - increased
 FACS CD4+ T cells - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
88 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
89 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
90 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
91 UTSW Fbxl3 0.283 delargo 14 103080239-103099566 bp (-) 103089418 Autosomal Recessive (4;46)
 Autosomal Semidominant (1;14)
2018-08-30
Anne Murray
 fasting hyperglycemia
92 UTSW Gys2 0.494 embittered 6 142422613-142473109 bp (-) 142454484 Autosomal Recessive (1;4) 2018-08-29
Anne Murray
 fasting hypoglycemia
93 UTSW Gys2 0.494 candy_corn 6 142422613-142473109 bp (-) 142456333 Autosomal Recessive (1;4) 2018-08-29
Anne Murray
 30 min GTT hyperglycemic
94 UTSW Gys2 0.494 hazelnut 6 142422613-142473109 bp (-) 142449455 Autosomal Recessive (3;19) 2018-08-29
Anne Murray
 fasting hypoglycemia
 fasting hypoglycemia (male)
95 UTSW
has photo
Egfr 0.891 Velvet 11 16752203-16918158 bp (+) 16904399 Unknown (1;0) 2018-08-28
Anne Murray
 immune system
 lethality-embryonic/perinatal
 skin/coat/nails
 touch/vibrissae
 vision/eye
96 UTSW Ifnar2 0.071 macro-2 16 91372783-91405589 bp (+) 91383899 Unknown (3;0) 2018-08-24
Diantha La Vine
 adenovirus infection of macrophages - increased
 immune system
 impaired response to dsDNA- type I IFN production by macrophages
 influenza proliferation in macrophages - increased
 MCMV proliferation in macrophages - increased
 RVFV proliferation in macrophages - increased
 RVFV susceptibility
97 UTSW Nos3 0.679 paul 5 24364810-24384474 bp (+) 24372704 Autosomal Recessive (2;8) 2018-08-23
External Program
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 3 - decreased
 Blood Pressure: MBP Average - increased
 Blood Pressure: MBP Day 2 - increased
 Blood Pressure: SBP Average - increased
 Blood Pressure: SBP Day 2 - increased
 Blood Pressure: SBP Day 3 - increased
 DSS: sensitive day 7
 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
98 UTSW Ptpn6 0.477 Vermeil 6 124720707-124738714 bp (-) 124732950 Autosomal Recessive (3;15)
 Autosomal Semidominant (6;34)
2018-08-21
Anne Murray
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - decreased
 FACS IgM+ B cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
99 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
100 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
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