Phenotypic Mutations

2 mutations affecting 2 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 2 of 2] per page Full List
 
question?
question?
question?
question?
~
question?
question?
question?
 

question?
question?
question?
Phenotypic Category question?

any of and
and none of and
and

question?
question?
 
question?
question?
 
1 UTSW
has photo
Gk5 0.000 9 96119362-96184608 bp (+) 96140629 Unknown (1;0)
 Autosomal Recessive (2;5)
excellent candidate 2019-06-17
External Program
 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 central memory CD8 T cells in CD8 T cells - increased
 skin/coat/nails
GCC ⇒ GC frame shift probably null
2 UTSW Ticam1 0.000 17 56269319-56276786 bp (-) 56271576 Unknown (2;0) no linkage results 2017-04-06
Katherine Timer
 DSS: sensitive day 7
 immune system
 MCMV susceptibility
 TLR signaling defect: TNF production by macrophages
 TLR signaling defect: type I IFN production by macrophages
TC ⇒ T small deletion
[records 1 to 2 of 2]