Phenotypic Mutations

18 mutations affecting 18 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 18 of 18] per page Full List Export
 
Source question?
Photo question?
Gene question?
E Score question?
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Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Updated question?
Phenotypic Category question?

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1 UTSW 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
2 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)
3 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
4 UTSW
has photo
Adamts20 0.239 Meowth 15 94270163-94465418 bp (-) 94331458 Autosomal Recessive (1;1)
 Autosomal Semidominant (1;4)
2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
 TLR signaling defect: hyposensitivity to PAM3CSK4
 TLR signaling defect: TNF production by macrophages
5 UTSW Mlh1 0.000 andalusia2 9 111228228-111271791 bp (-) 111271523 Autosomal Recessive (2;11) 2018-08-02
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
 total IgE level - decreased
6 UTSW Slc45a2 0.154 sweater 15 11000721-11029233 bp (+) 11012610 Unknown 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
7 UTSW
has video
Myo7a 0.000 coward 7 98051060-98119524 bp (-) 98085466 Autosomal Recessive (3;17) 2018-04-25
Anne Murray
 behavior/neurological
 hearing/vestibular/ear
8 UTSW Ltbr 0.117 kama 6 125306571-125313885 bp (-) 125313388 Autosomal Recessive (3;20) 2018-04-02
Diantha La Vine
 FACS T cells - decreased
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
9 UTSW
has photo
Samd4 0.590 supermodel 14 46882854-47105815 bp (+) 47016337 Unknown 2018-03-06
Diantha La Vine
 adipose tissue
 growth/size
 homeostasis/metabolism
 skeleton phenotype
10 UTSW Itk 0.391 goodnow 11 46325150-46389515 bp (-) 46338099 Autosomal Recessive (18;159) 2018-01-30
Anne Murray
 FACS B cells - increased
 FACS B:T 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+ 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 IgD+ B cell percentage - increased
 FACS IgM+ B cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
11 UTSW
has photo
Rab27a 0.360 ivan 9 73044854-73097629 bp (+) 73075544 Unknown (1;0) 2017-12-19
Anne Murray
 pigmentation
 skin/coat/nails
12 UTSW Map3k8 0.000 juicy 18 4331327-4353015 bp (-) 4339552 Autosomal Recessive (2;7) 2017-09-11
Diantha La Vine
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
13 UTSW Rel 0.000 Horus 11 23736847-23770970 bp (-) 23753215 Autosomal Recessive (8;41)
 Autosomal Semidominant (6;29)
2017-03-28
Katherine Timer
 FACS B1 cells - decreased
 FACS CD4+ T cells - increased
 FACS CD44+ CD4 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 CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - increased
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - decreased
14 UTSW Pik3cd 0.864 stinger 4 149649168-149702571 bp (-) 149657319 Autosomal Recessive (2;18) 2016-12-09
Katherine Timer
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
15 UTSW Krt33a 0.108 Polished 11 100011195-100016212 bp (-) 100012611 Unknown 2016-05-13
Stephen Lyon
 skin/coat/nails
16 UTSW
has photo
Sox10 1.000 Dalmatian 15 79154908-79165240 bp (-) 79163324 Unknown 2016-05-13
Peter Jurek
 pigmentation
 skin/coat/nails
17 UTSW
has photo
Hps3 0.182 blue 3 19995945-20035315 bp (-) 20030796 Autosomal Semidominant (1;1) 2016-05-13
Anne Murray
 pigmentation
 skin/coat/nails
18 APN Atp11c 0.106 18nih30a X 60223290-60592698 bp (-) 36608577 Unknown 2016-05-13
Stephen Lyon
 anemia
 FACS B cells - decreased
 hematopoietic system
 homeostasis/metabolism
 immune system
 liver/biliary system
[records 1 to 18 of 18]