Phenotypic Mutations

16 mutations affecting 15 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 16 of 16] 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 Sell dim_sum 1 164061982-164084181 bp (+) 164066201 Autosomal Recessive  decrease in naive CD4 T cells in CD4 T cells
2 UTSW Dock2 frizz 11 34226815-34783892 bp (-) 34258184 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
3 UTSW Yipf6 Klein-zschocher X 98936316-98949017 bp (+) 98940782 Autosomal Semidominant  DSS: sensitive day 7
immune system
4 UTSW Mlph koala 1 90915085-90951142 bp (+) 90933301 Autosomal Recessive  pigmentation
skin/coat/nails
5 APN Ptprc lochy 1 138062861-138175708 bp (-) 138083790 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
hematopoietic system
immune system
6 UTSW Tlr4 Lops 4 66827584-66930284 bp (+) 66833880 Autosomal Semidominant  NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
7 APN Cd4 maat 6 124864692-124888221 bp (-) 124866684 Autosomal Recessive  decrease in CD4+ T cells
immune system
8 UTSW Bloc1s5 minnie 13 38602709-38635109 bp (-) 38606734 Autosomal Recessive  hearing/vestibular/ear
pigmentation
skin/coat/nails
9 UTSW Dst phelps 1 33908225-34308661 bp (+) 34223795 Unknown  growth/size
10 UTSW Stat1 poison 1 52119440-52161865 bp (+) 52151225 Autosomal Recessive  decrease in NK cell response
immune system
MCMV susceptibility
11 UTSW
has photo
Ednrb pongo 14 103814625-103844173 bp (-) 103823274 Autosomal Recessive  digestive/alimentary
growth/size
life span-post-weaning/aging
skin/coat/nails
12 UTSW Prkdc Screamer7 16 15637866-15842235 bp (+) 15654817 Autosomal Semidominant  increase in CD44+ CD4 T cells
post-MCMV decrease in CD8+ T cells
post-MCMV increase in pDCs in CD11c+ cells
13 UTSW Map3k8 Sluggish 18 4331327-4353015 bp (-) 4339608 Autosomal Semidominant  immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
14 UTSW Adamts20 splotch2 15 94270163-94465418 bp (-) 94335561 Autosomal Recessive  pigmentation
skin/coat/nails
15 APN Cd4 thoth 6 124864692-124888221 bp (-) 124873140 Autosomal Recessive  decrease in CD4+ T cells
immune system
16 APN Nfkb2 xander 19 46304737-46312090 bp (+) Autosomal Recessive  decrease in B cells
immune system
[records 1 to 16 of 16]