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 Export
 
Source question?
Photo question?
Gene question?
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Phenotypic Category question?

and none of
1 UTSW Sell dim_sum 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1;4)
Autosomal Recessive (7;45)
naive CD4 T cells in CD4 T cells - decreased
2 UTSW Dock2 frizz 11 34226815-34783892 bp (-) 34258184 Unknown (1;0) B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
3 UTSW Yipf6 Klein-zschocher X 98936316-98949017 bp (+) 98940782 Unknown (1;0) DSS: sensitive day 7
immune system
4 UTSW Mlph koala 1 90915085-90951142 bp (+) 90933301 Unknown pigmentation
skin/coat/nails
5 APN Ptprc lochy 1 138062861-138175708 bp (-) 138083790 Unknown B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
hematopoietic system
immune system
6 UTSW Tlr4 Lops 4 66827584-66930284 bp (+) 66833880 Autosomal Semidominant (3;15) 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 Unknown CD4+ T cells - decreased
immune system
8 UTSW Bloc1s5 minnie 13 38602709-38635109 bp (-) 38606734 Unknown hearing/vestibular/ear
pigmentation
skin/coat/nails
9 UTSW Dst phelps 1 33908225-34308661 bp (+) 34223795 Autosomal Semidominant (1;1) growth/size
10 UTSW Stat1 poison 1 52119440-52161865 bp (+) 52151225 Unknown (2;0) immune system
MCMV susceptibility
NK cell response - decreased
11 UTSW
has photo
Ednrb pongo 14 103814625-103844173 bp (-) 103823274 Autosomal Recessive (1;3) digestive/alimentary
growth/size
life span-post-weaning/aging
skin/coat/nails
12 UTSW Prkdc Screamer7 16 15637866-15842235 bp (+) 15654817 Autosomal Recessive (2;8)
Autosomal Semidominant (1;6)
CD44+ CD4 T cells - increased
post-MCMV CD8+ T cells - decreased
post-MCMV pDCs in CD11c+ cells - increased
13 UTSW Map3k8 Sluggish 18 4331327-4353015 bp (-) 4339608 Unknown (1;0) 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 Unknown pigmentation
skin/coat/nails
15 APN Cd4 thoth 6 124864692-124888221 bp (-) 124873140 Unknown CD4+ T cells - decreased
immune system
16 APN Nfkb2 xander 19 46304737-46312090 bp (+) Unknown B cells - decreased
immune system
[records 1 to 16 of 16]