Phenotypic Mutations

138 mutations affecting 105 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 138] per page Full List
 
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1 UTSW Dsg2 0.144 18 20558074-20604521 bp (+) 20580651 Autosomal Recessive (6;41) 2019-01-18
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS CD4+ T cells - decreased
 FACS T cells - decreased
2 UTSW Clcnka 0.000 4 141384610-141398724 bp (-) 141395158 Autosomal Recessive (2;20) 2019-01-18
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
3 UTSW Pik3ap1 0.000 19 41274218-41385070 bp (-) 41356683 Unknown 2019-01-17
Diantha La Vine
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
4 UTSW Pappa2 0.000 1 158711727-158980490 bp (-) 158834918 Unknown (2;0)
 Autosomal Dominant (1;4)

 Autosomal Recessive (1;1)


 Autosomal Semidominant (1;5)
2019-01-15
Diantha La Vine
 Body Weight (Female) - decreased
 FACS B1b cells - decreased
 growth/size
5 UTSW Rasgrp1 0.285 2 117279993-117343001 bp (-) 117291792 Autosomal Recessive (26;515)
 Autosomal Semidominant (2;8)
2019-01-10
Anne Murray
 FACS B:T cells - increased
 FACS B1b cells - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgM MFI - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
6 UTSW Wdr41 0.000 13 94976344-95023314 bp (+) 95015174 Unknown 2019-01-09
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1a cells - increased
 FACS B220 MFI - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - 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
 FACS NK T cells - increased
 Nlrc4 inflammasome: low response
 NLRP3 inflammasome: low response
 TLR signaling defect: hypersensitivity to CpG + IFNg
 TLR signaling defect: hypersensitivity to LPS
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: hypersensitivity to poly I:C
 TLR signaling defect: hypersensitivity to R848
7 UTSW Tcf12 1.000 9 71842688-72111871 bp (-) 71944016 Autosomal Dominant (1;5) 2019-01-09
Diantha La Vine
 FACS central memory CD8 T cells in CD8 T cells - increased
8 UTSW Smcr8 0.000 11 60777524-60788287 bp (+) 60779870 Autosomal Recessive (5;24) 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
9 UTSW Elmo1 0.000 13 20090596-20608353 bp (+) 20600212 Autosomal Dominant (3;7)
 Autosomal Recessive (4;15)
2019-01-05
Diantha La Vine
 FACS B cells - decreased
 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 IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
10 UTSW Elmo1 0.000 13 20090596-20608353 bp (+) 20290383 Autosomal Recessive (4;26)
 Autosomal Semidominant (4;27)
2019-01-05
Diantha La Vine
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
11 UTSW Hcn2 0.542 10 79716634-79736108 bp (+) 79733773 Autosomal Recessive (13;80) 2018-12-20
Anne Murray
 Body Weight - decreased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - decreased
 Body Weight (Male) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD4+ T cells - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS T cells - increased
 Motor: Rotarod Weight - decreased
12 UTSW Nedd9 0.000 13 41309581-41487362 bp (-) 41338979 Autosomal Recessive (5;29) 2018-12-19
Diantha La Vine
 FACS B1a cells in B1 cells - decreased
 MCMV susceptibility
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
13 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85628735 Autosomal Recessive (16;132) 2018-12-18
Anne Murray
 Body Weight - increased
 Body Weight (BP Female) - increased
 Body Weight (BP) - increased
 Body Weight (Female) - increased
14 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (7;56)
 Autosomal Semidominant (2;9)
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
15 UTSW
has photo
Alms1 0.000 6 85587531-85702753 bp (+) 85627934 Autosomal Dominant (1;1)
 Autosomal Recessive (17;123)

 Autosomal Semidominant (3;10)
2018-12-07
Diantha La Vine
 30 min GTT hyperglycemic
 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 hyperglycemia (male)
 Fasting Insulin - increased
 Fasting Insulin (Female) - increased
 Fasting Insulin (Male) - increased
 growth/size
 NK cell response - decreased
 NK killing - decreased
16 UTSW Alms1 0.000 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
17 UTSW Cd3e 0.000 9 44998740-45009627 bp (-) 45006150 Unknown (1;0) 2018-11-30
Diantha La Vine
 hematopoietic system
 immune system
18 UTSW Dock2 0.000 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
19 UTSW Irf8 0.000 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
20 UTSW Hcn1 0.092 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
21 UTSW Ifnar1 0.000 16 91485238-91507441 bp (+) 91499537 Unknown (1;0)
 Autosomal Recessive (7;29)
2018-11-06
Diantha La Vine
 dsDNA induced type I IFN production - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS T cells - increased
 impaired response to dsDNA- type I IFN production by macrophages
22 UTSW Vav1 0.256 17 57279100-57328031 bp (+) 57303079 Autosomal Recessive (18;210)
 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
 total IgE level - decreased
23 UTSW Blnk 0.101 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
24 UTSW Atp11c 0.106 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
25 UTSW Mdm4 1.000 1 132959484-133030561 bp (-) 133012651 Autosomal Dominant (7;60) 2018-10-25
Anne Murray
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
26 UTSW Ikzf1 0.833 11 11685003-11772926 bp (+) 11768961 Autosomal Dominant (10;78) 2018-10-25
Bruce Beutler
 Body Weight (BP) - decreased
 FACS B1 cells - increased
 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 in CD3+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
27 UTSW Ebf1 0.929 11 44617317-45008091 bp (+) 44972908 Autosomal Dominant (1;9) 2018-10-25
Diantha La Vine
 FACS CD8+ T cells - increased
28 UTSW Irs1 0.401 1 82233101-82291416 bp (-) 82286967 Autosomal Recessive (6;32) 2018-10-24
Anne Murray
 Body Weight - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (DSS Male) - decreased
 Body Weight (DSS) - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
29 UTSW Cr2 0.174 1 195136811-195176716 bp (-) 195155888 Autosomal Semidominant (1;4) 2018-10-16
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
30 UTSW Ctss 0.154 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
31 UTSW Rasgrp1 0.285 2 117279993-117343001 bp (-) 117284929 Autosomal Recessive (18;323)
 Autosomal Semidominant (1;11)
2018-10-12
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 FACS T cells - decreased
32 UTSW Rasgrp1 0.285 2 117279993-117343001 bp (-) 117302004 Autosomal Recessive (17;95)
 Autosomal Semidominant (2;8)
2018-10-12
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 IgA response to 2nd OVA/Alum Challenge (day 7) - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - increased
33 UTSW Cdh23 0.000 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1;4) 2018-10-11
Diantha La Vine
 behavior/neurological
34 UTSW Ptprc 0.243 1 138062861-138175708 bp (-) 138068401 Autosomal Recessive (48;482)
 Autosomal Semidominant (7;48)
2018-10-05
Diantha La Vine
 30 min GTT hypoglycemic
 30 min GTT hypoglycemic (male)
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS CD11c+ DCs - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK T cells - decreased
 FACS T cells - decreased
 post-MCMV FACS B cells - decreased
 post-MCMV FACS B:T cells - decreased
 post-MCMV FACS B1 cells - increased
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
 post-MCMV FACS B220 MFI - decreased
 post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - increased
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD4+ T cells - decreased
 post-MCMV FACS CD44+ CD8 MFI - increased
 post-MCMV FACS CD44+ T MFI - increased
 post-MCMV FACS CD8+ T cells - decreased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
 post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
 post-MCMV FACS IgD MFI - decreased
 post-MCMV FACS IgD+ B cell percentage - decreased
 post-MCMV FACS IgM MFI - increased
 post-MCMV FACS IgM+ B cells - decreased
 post-MCMV FACS macrophages - decreased
 post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
 post-MCMV FACS neutrophils - increased
 post-MCMV FACS pDCs - decreased
 post-MCMV FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 total IgE level - decreased
35 UTSW Ptprc 0.243 1 138062861-138175708 bp (-) 138137493 Unknown 2018-10-05
Diantha La Vine
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
36 UTSW Ptprc 0.243 1 138062861-138175708 bp (-) 138113678 Autosomal Dominant (1;14)
 Autosomal Recessive (18;122)

 Autosomal Semidominant (2;12)
2018-10-05
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
37 UTSW
has photo
Adamts20 0.239 15 94270163-94465418 bp (-) 94347670 Autosomal Recessive (1;7) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
38 UTSW
has photo
Adamts20 0.239 15 94270163-94465418 bp (-) 94326699 Unknown 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
39 UTSW
has photo
Adamts20 0.239 15 94270163-94465418 bp (-) 94394622 Autosomal Recessive (1;4) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
40 UTSW Ppp3cb 0.000 14 20499364-20546573 bp (-) 20528195 Autosomal Dominant (1;6)
 Autosomal Recessive (3;29)

 Autosomal Semidominant (3;13)
2018-09-24
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ 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 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
41 UTSW Diaph1 0.000 18 37843601-37935476 bp (-) 37897550 Autosomal Recessive (15;167) 2018-09-24
Diantha La Vine
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS CD4+ 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 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
 IgA response to 2nd OVA/Alum Challenge (day 7) - increased
 MCMV susceptibility
42 UTSW Msh6 1.000 17 87975050-87990883 bp (+) 87980223 Autosomal Recessive (2;24) 2018-09-24
Anne Murray
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 total IgE level - decreased
43 UTSW
has photo
Gk5 0.000 9 96119362-96184608 bp (+) 96140656 Autosomal Recessive (10;65)
 Autosomal Semidominant (1;4)
2018-09-24
Anne Murray
 Body Weight (BP Female) - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 skin/coat/nails
44 UTSW
has photo
Gk5 0.000 9 96119362-96184608 bp (+) 96176237 Autosomal Recessive (9;82)
 Autosomal Semidominant (1;5)
2018-09-24
Anne Murray
 Blood Pressure: HR Day 1 - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 skin/coat/nails
45 UTSW Entpd5 0.000 12 84373857-84409029 bp (-) 84382295 Autosomal Recessive (9;41)
 Autosomal Semidominant (1;4)
2018-09-24
Anne Murray
 125-03 Response - increased
 Body Weight - decreased
 Body Weight (DSS) - decreased
 Body Weight (Female) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1 cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 growth/size
 TLR signaling defect: hypersensitivity to PAM3CSK4
46 UTSW Stk4 0.000 2 164070322-164155524 bp (+) 164083688 Autosomal Recessive (22;210) 2018-09-21
Anne Murray
 FACS B:T cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 FACS T cells - decreased
 Fasting Insulin (Female) - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
47 UTSW Gamt 0.372 10 80258151-80261012 bp (-) 80260724 Autosomal Recessive (3;21) 2018-09-18
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
48 UTSW Ighe 0.053 12 113271174-113273248 bp (-) 113271374 Autosomal Semidominant (3;13) 2018-09-14
Anne Murray
 IgE response to a Cysteine Protease (Papain) - decreased
 ratio of OVA-specific IgE over the total IgE - increased
 total IgE level - decreased
49 UTSW Dnajc3 0.229 14 118937976-118981697 bp (+) 118972387 Autosomal Recessive (6;27) 2018-09-14
Anne Murray
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS CD44+ CD8 T cells - increased
50 UTSW
has photo
Slc45a2 0.154 15 11000721-11029233 bp (+) 11000855 Autosomal Recessive (1;16) 2018-09-11
Anne Murray
 pigmentation
 skin/coat/nails
51 UTSW Ly96 0.164 1 16688051-16709611 bp (+) 16691716 Autosomal Recessive (6;33) 2018-09-06
Anne Murray
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 NALP3 inflammasome signaling defect
 Nlrc4 inflammasome: low response
 NLRP3 inflammasome: low response
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
52 UTSW Atm 0.823 9 53439149-53536740 bp (-) 53516467 Autosomal Recessive (9;63) 2018-08-27
Anne Murray
 FACS B:T cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 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
53 UTSW
has photo
Tshr 0.240 12 91384563-91549808 bp (+) 91538226 Unknown (1;0)
 Autosomal Recessive (1;5)
2018-08-23
Bruce Beutler
 Body Weight - decreased
 endocrine/exocrine gland
 growth/size
54 UTSW Ikzf1 0.833 11 11685003-11772926 bp (+) 11748464 Autosomal Dominant (1;4)
 Autosomal Recessive (10;117)

 Autosomal Semidominant (5;48)
2018-08-23
Diantha La Vine
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 2 - decreased
 Blood Pressure: HR Day 3 - decreased
 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 CD8+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
55 UTSW
has photo
Lyst 0.466 13 13590397-13778803 bp (+) 13696761 Autosomal Recessive (1;3) 2018-08-02
Anne Murray
 pigmentation
 skin/coat/nails
56 UTSW
has photo
Lyst 0.466 13 13590397-13778803 bp (+) 13602026 Unknown 2018-08-02
Diantha La Vine
 pigmentation
 skin/coat/nails
57 UTSW
has photo
Lyst 0.466 13 13590397-13778803 bp (+) 13647083 Autosomal Recessive (1;1) 2018-08-02
Diantha La Vine
 pigmentation
 skin/coat/nails
58 UTSW Lyst 0.466 13 13590397-13778803 bp (+) 13648802 Autosomal Recessive (1;5) 2018-08-02
Diantha La Vine
 pigmentation
 skin/coat/nails
59 UTSW Slc45a2 0.154 15 11000721-11029233 bp (+) 11012667 Unknown 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
60 UTSW
has photo
Slc45a2 0.154 15 11000721-11029233 bp (+) 11022172 Unknown 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
61 UTSW Cd22 0.000 7 30865402-30880342 bp (-) 30877787 Unknown 2018-07-27
Diantha La Vine
 FACS B cells - decreased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
62 UTSW Mc4r 0.062 18 66857715-66860472 bp (-) 66859180 Autosomal Semidominant (4;25) 2018-07-25
Anne Murray
 Body Weight - increased
 Body Weight (BP Male) - increased
 Body Weight (BP) - increased
 Body Weight (Male) - increased
63 UTSW Nfkb1 0.622 3 135584655-135691547 bp (-) 135626611 Autosomal Dominant (1;7)
 Autosomal Recessive (4;54)

 Autosomal Semidominant (5;29)
2018-07-20
Diantha La Vine
 FACS B1 cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE after 2nd OVA/Alum - decreased
 Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
 total IgE level - decreased
64 UTSW Nfkb1 0.622 3 135584655-135691547 bp (-) 135595053 Unknown (1;0)
 Autosomal Recessive (1;3)

 Autosomal Semidominant (2;8)
2018-07-20
Diantha La Vine
 NALP3 inflammasome signaling defect
 Nlrc4 inflammasome: low response
 NLRP3 inflammasome: low response
 T-dependent humoral response defect- decreased antibody response to rSFV
65 UTSW Klhl6 0.082 16 19946496-19983037 bp (-) 19957218 Autosomal Recessive (8;130)
 Autosomal Semidominant (6;41)
2018-07-20
Anne Murray
 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 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 MFI - decreased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS IgM+ B cells - decreased
 FACS T cells - increased
 total IgE level - increased
66 UTSW
has photo
Kbtbd2 0.000 6 56777524-56797813 bp (-) 56780389 Unknown (1;0)
 Autosomal Recessive (4;30)

 Autosomal Semidominant (1;7)
2018-07-20
Anne Murray
 30 min GTT hyperglycemic
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 FACS CD44+ CD8 T cells - increased
 growth/size
 liver/biliary system
67 UTSW Pnp 0.144 14 50931082-50965237 bp (+) 50951506 Autosomal Recessive (15;83)
 Autosomal Semidominant (2;8)
2018-07-18
Anne Murray
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - increased
 FACS B1b cells in B1 cells - increased
 FACS B2 cells - decreased
 FACS B220 MFI - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ 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 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
 T-dependent humoral response defect- decreased antibody response to rSFV
68 UTSW Pnp 0.144 14 50931082-50965237 bp (+) 50950923 Autosomal Recessive (1;5)
 Autosomal Semidominant (2;9)
2018-07-18
Anne Murray
 30 Min. Insulin (Male) - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
69 UTSW Grid2 0.000 6 63255876-64704323 bp (+) 64395280 Unknown 2018-05-22
Anne Murray
 behavior/neurological
70 UTSW Myo5a 0.869 9 75071015-75223688 bp (+) 75211127 Unknown 2018-05-22
Anne Murray
 behavior/neurological
 lethality-postnatal
 life span-post-weaning/aging
 pigmentation
 skin/coat/nails
71 UTSW Grm7 0.000 6 110645581-111567230 bp (+) 111495791 Autosomal Recessive (1;2) 2018-05-22
Anne Murray
 behavior/neurological
 limbs/digits/tail phenotype
 nervous system
72 UTSW
has video
Myo6 0.646 9 80165031-80311729 bp (+) 80246451 Unknown 2018-05-22
Anne Murray
 behavior/neurological
 hearing/vestibular/ear
73 UTSW
has video
Grid2 0.000 6 63255876-64704323 bp (+) 64429694 Autosomal Recessive (2;5) 2018-05-22
Anne Murray
 behavior/neurological
 growth/size
 MCMV susceptibility
 nervous system
74 UTSW Nek7 1.000 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant (2;10) 2018-05-21
Anne Murray
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
75 UTSW Themis 0.153 10 28668360-28883818 bp (+) 28761199 Autosomal Recessive (19;252) 2018-05-15
Anne Murray
 Blood Pressure: DBP Day 1 - increased
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 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+ CD8 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 naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
76 UTSW
has photo
Spag9 0.567 11 93996091-94126085 bp (+) 94093624 Unknown 2018-04-26
Anne Murray
 pigmentation
 skin/coat/nails
77 UTSW
has photohas video
Grm1 0.112 10 10686059-11082356 bp (-) 10741508 Autosomal Recessive (1;2) 2018-04-25
Anne Murray
 behavior/neurological
 growth/size
 life span-post-weaning/aging
 skeleton phenotype
78 UTSW
has video
Scn8a 0.811 15 100869858-101045938 bp (+) 101035624 Autosomal Recessive (1;3) 2018-04-25
Anne Murray
 behavior/neurological
79 APN Muc2 0.073 7 141690340-141754693 bp (+) Unknown 2018-04-25
Anne Murray
 inflammatory bowel disease phenotype
80 UTSW Lepr 0.000 4 101717404-101815352 bp (+) 101772959 Unknown 2018-04-06
Diantha La Vine
 adipose tissue
 behavior/neurological
 Body Weight - increased
 growth/size
 homeostasis/metabolism
 reproductive system
81 UTSW
has photo
Lepr 0.000 4 101717404-101815352 bp (+) 101768063 Unknown 2018-04-06
Diantha La Vine
 adipose tissue
 behavior/neurological
 Body Weight - increased
 growth/size
 homeostasis/metabolism
 reproductive system
82 UTSW
has photo
Lepr 0.000 4 101717404-101815352 bp (+) 101764872 Unknown 2018-04-06
Diantha La Vine
 adipose tissue
 behavior/neurological
 Body Weight - increased
 growth/size
 homeostasis/metabolism
 reproductive system
83 UTSW Bcl3 0.000 7 19808462-19822770 bp (-) 19809634 Autosomal Recessive (6;40) 2018-04-04
Anne Murray
 FACS B1 cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS IgD MFI - decreased
 FACS IgM MFI - increased
84 UTSW Bcl3 0.000 7 19808462-19822770 bp (-) 19811580 Autosomal Recessive (8;51)
 Autosomal Semidominant (3;14)
2018-03-30
Diantha La Vine
 125-03 Response - increased
 FACS B1 cells - increased
 FACS B1b cells in B1 cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS macrophages - increased
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
 Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
 total IgE level - decreased
85 UTSW Stat1 0.000 1 52119440-52161865 bp (+) 52153923 Autosomal Recessive (2;16) 2018-03-29
Diantha La Vine
 fasting hyperglycemia (female)
 NK cell response - decreased
 NK killing - decreased
86 UTSW Prkdc 0.976 16 15637866-15842235 bp (+) 15752829 Autosomal Recessive (25;367) 2018-03-28
Anne Murray
 Body Weight - decreased
 Body Weight (Male) - decreased
 FACS B cells - decreased
 FACS B:T cells - increased
 FACS B1 cells - decreased
 FACS B220 MFI - 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 - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T cells - decreased
 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 naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 FACS NK T cells - decreased
 FACS T cells - decreased
87 UTSW Prkdc 0.976 16 15637866-15842235 bp (+) 15831282 Autosomal Recessive (22;264) 2018-03-28
Diantha La Vine
 Body Weight - decreased
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS B1a cells - decreased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - 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 IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS neutrophils - increased
 FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
88 UTSW Tap2 0.101 17 34203527-34216321 bp (+) 34214032 Autosomal Recessive (16;242)
 Autosomal Semidominant (1;4)
2018-01-31
Anne Murray
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 FACS B1a cells in B1 cells - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 MFI - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - decreased
 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 - decreased
 FACS naive CD4 T cells in CD4 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 NK cell response - decreased
 NK killing - decreased
89 UTSW Tg 0.182 15 66670753-66850721 bp (+) 66766162 Unknown (1;0)
 Autosomal Recessive (3;18)
2018-01-15
Diantha La Vine
 Body Weight - decreased
 Body Weight (Female) - decreased
 OVA-specific IgE - increased
90 UTSW
has photo
Oca2 0.236 7 56239760-56536518 bp (+) 56295498 Autosomal Recessive (1;4) 2018-01-12
Diantha La Vine
 pigmentation
 skin/coat/nails
91 UTSW Adgre1 0.247 17 57358686-57483529 bp (+) 57402841 Unknown 2017-12-19
Anne Murray
 FACS macrophages - decreased
92 UTSW Nlrp3 0.050 11 59541568-59566956 bp (+) 59565128 Autosomal Dominant (1;4)
 Autosomal Semidominant (1;5)
2017-11-11
Emre Turer
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
93 UTSW
has photo
Fgf5 0.140 5 98254184-98277030 bp (+) 98254746 Unknown 2017-10-13
Anne Murray
 skin/coat/nails
94 UTSW Tap1 0.000 17 34187553-34197225 bp (+) 34193258 Autosomal Recessive (3;20) 2017-09-15
Anne Murray
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
95 UTSW Ticam2 0.000 18 46559155-46574533 bp (-) 46560922 Autosomal Semidominant (3;10) 2017-09-08
Diantha La Vine
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
96 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140876495 Unknown 2017-09-08
Diantha La Vine
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
97 UTSW Rac2 0.110 15 78559167-78572783 bp (-) 78570743 Autosomal Recessive (5;26)
 Autosomal Semidominant (1;6)
2017-08-09
Diantha La Vine
 FACS B cells - decreased
 FACS B1b cells in B1 cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS neutrophils - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
98 UTSW Tub 0.000 7 108950338-109034460 bp (+) 109020954 Autosomal Recessive (7;34) 2017-06-16
Bruce Beutler
 adipose tissue
 Body Weight - increased
 Body Weight (DSS Female) - increased
 Body Weight (DSS Male) - increased
 Body Weight (DSS) - increased
 Body Weight (Female) - increased
 growth/size
99 UTSW Socs2 0.130 10 95385362-95417180 bp (-) 95413081 Autosomal Recessive (3;15)
 Autosomal Semidominant (1;5)
2017-06-05
Bruce Beutler
 Body Weight - increased
 Body Weight (DSS Male) - increased
 Body Weight (DSS) - increased
 Body Weight (Male) - increased
 growth/size
100 UTSW
has video
Slc26a4 0.000 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive (2;9) 2017-06-01
Emre Turer
 behavior/neurological
 DSS: sensitive day 10
 hearing/vestibular/ear
[records 1 to 100 of 138]