Phenotypic Mutations

684 mutations affecting 330 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 686] per page Full List Export
 
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1 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
2 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
3 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
4 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
5 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
6 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
7 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
8 UTSW
has photo
Mc4r 0.062 southbeach 18 66857715-66860472 bp (-) 66859142 Unknown 2018-12-10
Diantha La Vine
 adipose tissue
 growth/size
9 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
10 UTSW Hcn2 0.542 curveball2 10 79716634-79736108 bp (+) 79733773 Autosomal Recessive (5;33) 2018-12-10
Anne Murray
 Body Weight - decreased
 Body Weight (Male) - decreased
 FACS CD4:CD8 - increased
 Motor: Rotarod Weight - decreased
11 UTSW Alms1 0.000 ares2 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (6;52)
 Autosomal Semidominant (1;5)
2018-12-07
Diantha La Vine
 30 Min. Insulin (Male) - increased
 Body Weight - increased
 Fasting Insulin - increased
 Fasting Insulin (Female) - increased
 Fasting Insulin (Male) - increased
12 UTSW
has photo
Alms1 0.000 fatty 6 85587531-85702753 bp (+) 85627934 Autosomal Dominant (1;1)
 Autosomal Recessive (15;114)

 Autosomal Semidominant (3;10)
2018-12-07
Diantha La Vine
 30 Min. Insulin - increased
 30 Min. Insulin (Female) - increased
 30 Min. Insulin (Male) - increased
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 FACS CD11b+ DCs (gated in CD11c+ cells) - increased
 fasting hyperglycemia
 fasting hyperglycemia (female)
 Fasting Insulin - increased
 Fasting Insulin (Female) - increased
 Fasting Insulin (Male) - increased
 growth/size
 NK cell response - decreased
 NK killing - decreased
13 UTSW Alms1 0.000 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (1;5)
 Autosomal Semidominant (1;4)
2018-12-07
Diantha La Vine
 Body Weight - increased
 Body Weight (Male) - increased
 growth/size
14 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
15 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
16 UTSW
has video
Cacna1a 0.712 totter 8 84388440-84640246 bp (+) 84588753 Autosomal Recessive (5;22) 2018-12-06
Anne Murray
 behavior/neurological
17 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
18 UTSW Il12a 0.000 bakers_dozen 3 68690644-68698547 bp (+) 68697987 Autosomal Recessive (2;9)
 Autosomal Semidominant (1;4)
2018-12-05
Anne Murray
 FACS CD8+ T cells - increased
 MCMV proliferation in macrophages - increased
 MCMV susceptibility
 ratio of OVA-specific IgE over the total IgE - increased
19 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
20 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
21 UTSW Tcf12 1.000 Poorly 9 71842688-72111871 bp (-) 71944016 Autosomal Dominant (4;21) 2018-12-05
Anne Murray
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells - increased
22 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
23 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
24 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
25 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
26 UTSW Cd3e 0.000 tumormouse 9 44998740-45009627 bp (-) 45006150 Unknown (1;0) 2018-11-30
Diantha La Vine
 hematopoietic system
 immune system
27 UTSW Dock2 0.000 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive (5;29) 2018-11-29
Diantha La Vine
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 OVA-specific IgE - increased
 total IgE level - increased
28 UTSW Dock2 0.000 frizz 11 34226815-34783892 bp (-) 34258184 Unknown (1;0) 2018-11-29
Diantha La Vine
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 immune system
 T-dependent humoral response defect- decreased antibody response to rSFV
29 UTSW Dock2 0.000 frazz 11 34226815-34783892 bp (-) 34248572 Unknown (2;0) 2018-11-29
Diantha La Vine
 FACS B cells - decreased
 immune system
 T-dependent humoral response defect- decreased antibody response to rSFV
30 UTSW Dock2 0.000 denali 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive (2;25)
 Autosomal Semidominant (5;25)
2018-11-29
Diantha La Vine
 FACS B cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS neutrophils - increased
 FACS NK cells - increased
 total IgE level - increased
31 UTSW Dock2 0.000 dew 11 34226815-34783892 bp (-) 34248636 Unknown (1;0) 2018-11-29
Diantha La Vine
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
32 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
33 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
34 UTSW Irf8 0.000 gemini 8 120736358-120756694 bp (+) 120743883 Unknown (2;0) 2018-11-29
Diantha La Vine
 cellular phenotype
 FACS CD8+ T cells - decreased
 immune system
 MCMV susceptibility
 response to injected CpG DNA - decreased
35 UTSW
has photo
Dsg4 0.608 burrito 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive (1;5) 2018-11-29
Anne Murray
 skin/coat/nails
36 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
37 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
38 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
39 UTSW Gsdmd 0.000 gasder 15 75862327-75867408 bp (+) 75864357 Autosomal Recessive (1;9) 2018-11-16
Anne Murray
 Nlrc4 inflammasome: low response
40 UTSW Hcn1 0.092 Thump 13 117602320-117987418 bp (+) 117873905 Autosomal Recessive (1;8)
 Autosomal Semidominant (2;16)
2018-11-16
Anne Murray
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 2 - decreased
 Blood Pressure: HR Day 3 - decreased
41 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
42 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
43 UTSW Ifnar1 0.000 shook 16 91485238-91507441 bp (+) 91499537 Autosomal Recessive (7;30) 2018-11-06
Diantha La Vine
 dsDNA induced type I IFN production - decreased
 FACS B:T cells - decreased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS T cells - increased
 impaired response to dsDNA- type I IFN production by macrophages
44 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
45 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
46 UTSW Rho 0.155 bemr3 6 115931748-115940036 bp (+) 115935131 Unknown 2018-11-01
Diantha La Vine
 vision/eye
47 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
48 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
49 UTSW Vav1 0.256 tardive 17 57279100-57328031 bp (+) 57303079 Autosomal Recessive (17;206)
 Autosomal Semidominant (2;23)
2018-10-25
Diantha La Vine
 FACS B:T cells - increased
 FACS B1 cells - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS IgD MFI - decreased
 FACS IgM MFI - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
50 UTSW Ppp3cb 0.000 Copacabana 14 20499364-20546573 bp (-) 20530942 Autosomal Dominant (1;4)
 Autosomal Recessive (4;21)

 Autosomal Semidominant (8;48)
2018-10-25
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
51 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
52 UTSW Prkcd 0.368 rigged 14 30595354-30626210 bp (-) 30610301 Autosomal Recessive (1;5)
 Autosomal Semidominant (1;5)
2018-10-25
Diantha La Vine
 DSS: sensitive day 10
 DSS: sensitive day 7
53 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
54 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
55 UTSW Blnk 0.101 busy 19 40928927-40994535 bp (-) 40952391 Unknown (2;0) 2018-10-25
Diantha La Vine
 FACS B cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
56 UTSW Pik3ap1 0.000 sothe 19 41274218-41385070 bp (-) 41356683 Unknown 2018-10-25
Diantha La Vine
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
57 UTSW Atp11c 0.106 emptyhive X 60223290-60592698 bp (-) 60269987 Unknown 2018-10-25
Diantha La Vine
 FACS B cells - decreased
 hematopoietic system
 homeostasis/metabolism
 immune system
 liver/biliary system
 reproductive system
58 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
59 UTSW Cd79b 0.030 hallasan 11 106311341-106314762 bp (-) 106312441 Autosomal Recessive (11;178)
 Autosomal Semidominant (1;23)
2018-10-25
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4+ T cells - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD8+ T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - decreased
 FACS NK cells - decreased
 FACS T cells - increased
60 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
61 UTSW Gck 1.000 Tootsie 11 5900820-5950081 bp (-) 5909150 Autosomal Dominant (1;5) 2018-10-25
Anne Murray
62 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
63 UTSW Mdm4 1.000 Sun_island 1 132959484-133030561 bp (-) 133012651 Autosomal Dominant (7;60) 2018-10-25
Anne Murray
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
64 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
65 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
66 UTSW Ikzf1 0.833 Herrscher 11 11685003-11772926 bp (+) 11768961 Autosomal Dominant (12;110) 2018-10-25
Bruce Beutler
 Blood Pressure: HR Day 3 - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 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 T cells - increased
67 UTSW Pparg 1.000 Energy 6 115360951-115490399 bp (+) 115451044 Unknown 2018-10-25
Anne Murray
 growth/size
68 UTSW Ebf1 0.929 Crater_lake 11 44617317-45008091 bp (+) 44972908 Autosomal Dominant (8;57) 2018-10-25
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS T cells - increased
69 UTSW Tcf7l2 1.000 banned 19 55741810-55933654 bp (+) 55931432 Autosomal Recessive (3;15) 2018-10-25
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS central memory CD8 T cells in CD8 T cells - increased
70 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
71 UTSW Irs1 0.401 runt2 1 82233101-82291416 bp (-) 82286967 Autosomal Recessive (6;32) 2018-10-24
Anne Murray
 Body Weight - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (DSS Male) - decreased
 Body Weight (DSS) - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
72 UTSW Irs2 0.657 Dum_dum 8 10984681-11008458 bp (-) 10987012 Autosomal Semidominant (6;31) 2018-10-24
Anne Murray
 30 Min. Insulin - increased
 30 Min. Insulin (Female) - increased
 30 Min. Insulin (Male) - increased
 fasting hyperglycemia
 fasting hyperglycemia (female)
73 UTSW Irs1 0.401 runt 1 82233101-82291416 bp (-) 82287732 Unknown (1;0)
 Autosomal Recessive (4;15)
2018-10-24
Anne Murray
 Body Weight - decreased
 Body Weight (Male) - decreased
 Fasting Insulin - increased
74 UTSW Ryr2 1.000 arruda3 13 11553102-12106945 bp (-) 11555448 Autosomal Dominant (1;4) 2018-10-24
Anne Murray
 Blood Pressure: HR Average - decreased
75 UTSW Ryr2 1.000 Arruda 13 11553102-12106945 bp (-) 11643895 Autosomal Semidominant (1;5) 2018-10-24
Anne Murray
 Blood Pressure: HR Average - increased
76 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
77 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)
78 UTSW Cr2 0.174 Pillar 1 195136811-195176716 bp (-) 195155888 Autosomal Semidominant (1;4) 2018-10-16
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
79 UTSW Ctss 0.154 clip 3 95526786-95556403 bp (+) 95545384 Autosomal Recessive (2;11) 2018-10-16
Anne Murray
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: TNF production by macrophages
80 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
81 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
82 UTSW Rasgrp1 0.285 venutian 2 117279993-117343001 bp (-) 117284929 Autosomal Recessive (18;323)
 Autosomal Semidominant (1;11)
2018-10-12
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 FACS T cells - decreased
83 UTSW Rasgrp1 0.285 naejangsan 2 117279993-117343001 bp (-) 117291792 Autosomal Recessive (21;491)
 Autosomal Semidominant (1;4)
2018-10-12
Diantha La Vine
 FACS B:T cells - increased
 FACS B1b cells - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgM MFI - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
84 UTSW Rasgrp1 0.285 grouper 2 117279993-117343001 bp (-) 117302004 Autosomal Recessive (17;95)
 Autosomal Semidominant (2;8)
2018-10-12
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 IgA response to 2nd OVA/Alum Challenge (day 7) - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - increased
85 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
86 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
87 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
88 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
89 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
90 UTSW Cdh23 0.000 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1;4) 2018-10-11
Diantha La Vine
 behavior/neurological
91 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
92 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
93 APN Ptprc 0.256 lochy 1 138062861-138175708 bp (-) 138083790 Unknown 2018-10-05
Diantha La Vine
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
94 UTSW Ptprc 0.256 fuchsia 1 138062861-138175708 bp (-) 138101041 Autosomal Recessive (17;235)
 Autosomal Semidominant (1;17)
2018-10-05
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
95 UTSW Ptprc 0.256 guotie 1 138062861-138175708 bp (-) 138068401 Autosomal Recessive (49;486)
 Autosomal Semidominant (6;43)
2018-10-05
Diantha La Vine
 30 min GTT hypoglycemic
 30 min GTT hypoglycemic (male)
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS CD11c+ DCs - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK T cells - decreased
 FACS T cells - decreased
 post-MCMV FACS B cells - decreased
 post-MCMV FACS B:T cells - decreased
 post-MCMV FACS B1 cells - increased
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B220 MFI - decreased
 post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - increased
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD4+ T cells - decreased
 post-MCMV FACS CD44+ CD8 MFI - increased
 post-MCMV FACS CD44+ T MFI - increased
 post-MCMV FACS CD8+ T cells - decreased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
 post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
 post-MCMV FACS IgD MFI - decreased
 post-MCMV FACS IgD+ B cell percentage - decreased
 post-MCMV FACS IgM MFI - increased
 post-MCMV FACS IgM+ B cells - decreased
 post-MCMV FACS macrophages - decreased
 post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
 post-MCMV FACS neutrophils - increased
 post-MCMV FACS pDCs - decreased
 post-MCMV FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 total IgE level - decreased
96 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
97 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
98 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
99 UTSW Ptprc 0.256 belittle 1 138062861-138175708 bp (-) 138137493 Unknown 2018-10-05
Diantha La Vine
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
100 UTSW Ptprc 0.256 jirisan 1 138062861-138175708 bp (-) 138113678 Autosomal Dominant (1;11)
 Autosomal Recessive (21;279)

 Autosomal Semidominant (1;8)
2018-10-05
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK T cells - decreased
 FACS T cells - decreased
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