Phenotypic Mutations

132 mutations affecting 100 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 132] per page Full List Export
 
Source question?
Photo question?
Gene question?
E Score question?
~
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Updated question?
Phenotypic Category question?

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1 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
2 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
3 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
4 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
5 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
6 UTSW Cd3e 0.000 tumormouse 9 44998740-45009627 bp (-) 45006150 Unknown (1;0) 2018-11-30
Diantha La Vine
 hematopoietic system
 immune system
7 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
8 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
9 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
10 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
11 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
12 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
13 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
14 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
15 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
16 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
17 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
18 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
19 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
20 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
21 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
22 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
23 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
24 UTSW Cdh23 0.000 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive (1;4) 2018-10-11
Diantha La Vine
 behavior/neurological
25 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
26 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
27 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
28 UTSW
has photo
Adamts20 0.239 wash 15 94270163-94465418 bp (-) 94347670 Autosomal Recessive (1;7) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
29 UTSW
has photo
Adamts20 0.239 panda 15 94270163-94465418 bp (-) 94326699 Unknown 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
30 UTSW
has photo
Adamts20 0.239 poliwag 15 94270163-94465418 bp (-) 94394622 Autosomal Recessive (1;4) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
31 UTSW Ppp3cb 0.000 eden_express 14 20499364-20546573 bp (-) 20528195 Autosomal Dominant (1;6)
 Autosomal Recessive (4;39)

 Autosomal Semidominant (4;18)
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
32 UTSW Diaph1 0.000 damselfly 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
 MCMV susceptibility
33 UTSW Msh6 1.000 medea 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
34 UTSW
has photo
Gk5 0.000 homer 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
35 UTSW
has photo
Gk5 0.000 sean 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
36 UTSW Entpd5 0.000 eatsy 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
37 UTSW Stk4 0.000 stryker 2 164070322-164155524 bp (+) 164083688 Autosomal Recessive (24;227)
 Autosomal Semidominant (1;8)
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
38 UTSW Gamt 0.372 mr_bigger 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
39 UTSW Ighe 0.053 Allegra 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
40 UTSW Dnajc3 0.229 vanishing 14 118937976-118981697 bp (+) 118972387 Autosomal Recessive (5;23) 2018-09-14
Anne Murray
 Body Weight - decreased
 Body Weight (Male) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS CD44+ CD8 T cells - increased
41 UTSW
has photo
Slc45a2 0.154 goku 15 11000721-11029233 bp (+) 11000855 Autosomal Recessive (1;16) 2018-09-11
Anne Murray
 pigmentation
 skin/coat/nails
42 UTSW Ly96 0.164 pique 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
43 UTSW Atm 0.823 mockingbird 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
44 UTSW
has photo
Tshr 0.240 freckle 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
45 UTSW Ikzf1 0.833 waxwing 11 11685003-11772926 bp (+) 11748464 Autosomal Dominant (1;4)
 Autosomal Recessive (10;117)

 Autosomal Semidominant (6;65)
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 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 - 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
46 UTSW Elmo1 0.000 Edinburg 13 20090596-20608353 bp (+) 20290383 Autosomal Recessive (4;26)
 Autosomal Semidominant (4;27)
2018-08-08
Anne Murray
 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
47 UTSW Elmo1 0.000 sesame 13 20090596-20608353 bp (+) 20600212 Autosomal Dominant (3;7)
 Autosomal Recessive (5;19)
2018-08-08
Anne Murray
 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 CD8+ T cells in CD3+ T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
48 UTSW
has photo
Lyst 0.466 charcoal 13 13590397-13778803 bp (+) 13696761 Autosomal Recessive (1;3) 2018-08-02
Anne Murray
 pigmentation
 skin/coat/nails
49 UTSW
has photo
Lyst 0.466 charlotte_gray 13 13590397-13778803 bp (+) 13602026 Unknown 2018-08-02
Diantha La Vine
 pigmentation
 skin/coat/nails
50 UTSW
has photo
Lyst 0.466 charzard 13 13590397-13778803 bp (+) 13647083 Autosomal Recessive (1;1) 2018-08-02
Diantha La Vine
 pigmentation
 skin/coat/nails
51 UTSW Lyst 0.466 robin 13 13590397-13778803 bp (+) 13648802 Autosomal Recessive (1;5) 2018-08-02
Diantha La Vine
 pigmentation
 skin/coat/nails
52 UTSW Slc45a2 0.154 galak 15 11000721-11029233 bp (+) 11012667 Unknown 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
53 UTSW
has photo
Slc45a2 0.154 cardigan 15 11000721-11029233 bp (+) 11022172 Unknown 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
54 UTSW Cd22 0.000 well 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
55 UTSW Mc4r 0.062 Cetacean 18 66857715-66860472 bp (-) 66859180 Autosomal Semidominant (2;16) 2018-07-25
Anne Murray
 Body Weight - increased
 Body Weight (Male) - increased
56 UTSW Nfkb1 0.622 kookaburra 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
57 UTSW Nfkb1 0.622 Finlay 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
58 UTSW Klhl6 0.082 cerulean 16 19946496-19983037 bp (-) 19957218 Autosomal Recessive (8;130)
 Autosomal Semidominant (7;45)
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
 T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - increased
59 UTSW
has photo
Kbtbd2 0.000 teeny 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
60 UTSW Pnp 0.144 porch2 14 50931082-50965237 bp (+) 50951506 Autosomal Recessive (20;135)
 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+ CD4 MFI - 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 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 T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
61 UTSW Pnp 0.144 Porch 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
62 UTSW Grid2 0.000 swagger 6 63255876-64704323 bp (+) 64395280 Unknown 2018-05-22
Anne Murray
 behavior/neurological
63 UTSW Myo5a 0.869 silver_decerebrate_2 9 75071015-75223688 bp (+) 75211127 Unknown 2018-05-22
Anne Murray
 behavior/neurological
 lethality-postnatal
 life span-post-weaning/aging
 pigmentation
 skin/coat/nails
64 UTSW Grm7 0.000 shaky 6 110645581-111567230 bp (+) 111495791 Autosomal Recessive (1;2) 2018-05-22
Anne Murray
 behavior/neurological
 limbs/digits/tail phenotype
 nervous system
65 UTSW
has video
Myo6 0.646 mayday_circler 9 80165031-80311729 bp (+) 80246451 Unknown 2018-05-22
Anne Murray
 behavior/neurological
 hearing/vestibular/ear
66 UTSW
has video
Grid2 0.000 crawler 6 63255876-64704323 bp (+) 64429694 Autosomal Recessive (2;5) 2018-05-22
Anne Murray
 behavior/neurological
 growth/size
 MCMV susceptibility
 nervous system
67 UTSW Nek7 1.000 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant (2;10) 2018-05-21
Anne Murray
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
68 UTSW Themis 0.153 cloudies 10 28668360-28883818 bp (+) 28761199 Autosomal Recessive (18;248) 2018-05-15
Anne Murray
 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
69 UTSW
has photo
Spag9 0.567 dazzle 11 93996091-94126085 bp (+) 94093624 Unknown 2018-04-26
Anne Murray
 pigmentation
 skin/coat/nails
70 UTSW
has photohas video
Grm1 0.112 donald 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
71 UTSW
has video
Scn8a 0.811 dan 15 100869858-101045938 bp (+) 101035624 Autosomal Recessive (1;3) 2018-04-25
Anne Murray
 behavior/neurological
72 APN Muc2 0.073 kenny 7 141690340-141754693 bp (+) Unknown 2018-04-25
Anne Murray
 inflammatory bowel disease phenotype
73 UTSW Lepr 0.000 well-upholstered 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
74 UTSW
has photo
Lepr 0.000 cherub 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
75 UTSW
has photo
Lepr 0.000 business_class 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
76 UTSW Bcl3 0.000 sunrise2 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
77 UTSW Bcl3 0.000 sunrise 7 19808462-19822770 bp (-) 19811580 Autosomal Dominant (1;5)
 Autosomal Recessive (8;51)

 Autosomal Semidominant (3;15)
2018-03-30
Diantha La Vine
 FACS B1 cells - increased
 FACS B1b cells in B1 cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD8+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 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
78 UTSW Stat1 0.000 rollo 1 52119440-52161865 bp (+) 52153923 Autosomal Recessive (4;26) 2018-03-29
Diantha La Vine
 fasting hyperglycemia (female)
 NK cell response - decreased
 NK killing - decreased
79 UTSW Prkdc 0.976 liming 16 15637866-15842235 bp (+) 15752829 Autosomal Recessive (23;359) 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+ 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
80 UTSW Prkdc 0.976 screamer 16 15637866-15842235 bp (+) 15831282 Autosomal Recessive (21;259) 2018-03-28
Diantha La Vine
 Body Weight - decreased
 FACS B cells - decreased
 FACS B1 cells - increased
 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
81 UTSW Tap2 0.101 date2 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
82 UTSW Tg 0.182 ito 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
83 UTSW
has photo
Oca2 0.236 narwhal 7 56239760-56536518 bp (+) 56295498 Autosomal Recessive (2;9) 2018-01-12
Diantha La Vine
 FACS CD44+ CD8 T cells - increased
 pigmentation
 skin/coat/nails
84 UTSW Adgre1 0.247 Onion 17 57358686-57483529 bp (+) 57402841 Unknown 2017-12-19
Anne Murray
 FACS macrophages - decreased
85 UTSW Nlrp3 0.050 Park2 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
86 UTSW
has photo
Fgf5 0.140 porcupine 5 98254184-98277030 bp (+) 98254746 Unknown 2017-10-13
Anne Murray
 skin/coat/nails
87 UTSW Tap1 0.000 joplin 17 34187553-34197225 bp (+) 34193258 Autosomal Recessive (4;24) 2017-09-15
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
88 UTSW Pappa2 0.000 Lilliputian2 1 158711727-158980490 bp (-) 158834918 Unknown (2;0)
 Autosomal Dominant (2;8)

 Autosomal Semidominant (1;5)
2017-09-12
Diantha La Vine
 Body Weight - decreased
 Body Weight (Female) - decreased
 growth/size
89 UTSW Ticam2 0.000 Messi 18 46559155-46574533 bp (-) 46560922 Autosomal Semidominant (4;14) 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
90 UTSW Card11 0.000 May 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
91 UTSW Rac2 0.110 potter 15 78559167-78572783 bp (-) 78570743 Autosomal Recessive (5;26)
 Autosomal Semidominant (2;11)
2017-08-09
Diantha La Vine
 FACS B cells - decreased
 FACS B1a cells in B1 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
92 UTSW Tub 0.000 troy 7 108950338-109034460 bp (+) 109020954 Autosomal Recessive (6;30) 2017-06-16
Bruce Beutler
 adipose tissue
 Body Weight - increased
 Body Weight (DSS Male) - increased
 Body Weight (DSS) - increased
 Body Weight (Female) - increased
 growth/size
93 UTSW Socs2 0.130 samson 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
94 UTSW
has video
Slc26a4 0.000 cul-de-sac 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive (1;2) 2017-06-01
Emre Turer
 behavior/neurological
 hearing/vestibular/ear
95 UTSW
has photo
Hps3 0.182 gandalf 3 19995945-20035315 bp (-) 20012796 Autosomal Recessive (1;2) 2017-05-31
Katherine Timer
 pigmentation
 skin/coat/nails
96 UTSW Itgax 0.080 Adendritic 7 128129547-128150657 bp (+) 128148572 Autosomal Recessive (1;7)
 Autosomal Semidominant (2;20)
2017-05-17
Katherine Timer
 FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
 FACS CD11c+ DCs - decreased
 FACS pDCs - increased
97 UTSW Slx4 1.000 slim 16 3979105-4003770 bp (-) 3990910 Autosomal Recessive (5;26) 2017-05-12
Anne Murray
 Body Weight - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (DSS) - decreased
 Body Weight (Female) - decreased
 growth/size
98 UTSW Clock 0.554 uhr 5 76209868-76304792 bp (-) 76229554 Autosomal Recessive (1;2) 2017-05-10
Katherine Timer
 Body Weight - increased
99 UTSW
has photo
Gsdma3 0.232 Michelin 11 98626360-98638226 bp (+) 98637573 Unknown 2017-04-11
Katherine Timer
 skin/coat/nails
100 UTSW Map3k14 0.500 lucky 11 103219762-103267472 bp (-) 103249558 Unknown (1;0) 2017-04-06
Katherine Timer
 FACS B cells - decreased
 hematopoietic system
 immune system
 T-dependent humoral response defect- decreased antibody response to rSFV
[records 1 to 100 of 132]