Phenotypic Mutations

17 mutations affecting 17 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 17 of 17] per page Full List
 
Source question?
Photo question?
Gene question?
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Phenotypic Category question?
1 UTSW Sppl2a abra2 2 126890391-126933235 bp (-) 126920313 Autosomal Recessive  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
2 UTSW Eif2ak4 atchoum 2 118388618-118475234 bp (+) 118400653 Autosomal Recessive  adenovirus infection of macrophages- increased
immune system
MCMV proliferation in macrophages- increased
3 UTSW Rorc chestnut 3 94372831-94397839 bp (+) 94377609 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
4 UTSW Jak3 citron 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive  cellular phenotype
hematopoietic system
immune system
increase in B cells
increase in B:T cells
increase in IgD+ B cells
increase in IgM+ B cells
5 UTSW
has photo
Spink5 crusty2 18 43963235-44022501 bp (+) 43999935 Autosomal Recessive  immune system
skin/coat/nails
6 UTSW Ern2 Ernie2 7 122169893-122186216 bp (-) 122180862 Autosomal Semidominant  DSS: sensitive day 10
7 UTSW Tnfsf13b Frozen 8 10006843-10035441 bp (+) 10031661 Autosomal Semidominant  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in CD11c+ DCs
increase in CD8+ T cells
increase in macrophages
increase in neutrophils
increase in T cells
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
8 UTSW Irf4 Honey2 13 30749226-30766927 bp (+) 30761490 Autosomal Semidominant  increase in B1 cells
increase in IgM MFI in B cells
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
9 UTSW Itgam invisible 7 128062640-128128160 bp (+) 128070703 Autosomal Recessive  decrease in CD11b+ DCs in CD11c+ cells
decrease in macrophages
decrease in neutrophils
increase in CD8a+ DCs in CD11c+ cells
increase in pDCs in CD11c+ cells
10 UTSW Unc13d jinx 11 116062095-116077961 bp (-) 116073423 Autosomal Recessive  decrease in NK cell response
DSS: sensitive day 7
hematopoietic system
immune system
MCMV susceptibility
11 UTSW Irf9 Long_lost 14 55603571-55610030 bp (+) 55605910 Autosomal Semidominant  dsDNA induced type I IFN production: increased
Macrophage necroptosis: high
12 UTSW Myo5a nut 9 75071015-75223688 bp (+) Autosomal Recessive  pigmentation
skin/coat/nails
13 UTSW
has photo
Lepr odd 4 101717404-101815352 bp (+) 101728075 Unknown  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
14 UTSW
has photo
Dtnbp1 salt_and_pepper 13 44922079-45002096 bp (-) 44941438 Autosomal Recessive  decrease in NK cell response
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
15 UTSW
has photo
Egfr set 11 16752203-16918158 bp (+) 16871881 Autosomal Recessive  skin/coat/nails
16 UTSW
has video
Pcdh15 tortilla 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive  behavior/neurological
17 UTSW
has photo
Lyst vulpix 13 13590409-13777440 bp (+) 13696794 Autosomal Recessive  pigmentation
skin/coat/nails
[records 1 to 17 of 17]