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
 




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Verification Probability

Phenotypic Category

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1 UTSW
has photo
Gk5 0.000 toku 9 96119362-96184608 bp (+) 96140629 Unknown (1;0)
Autosomal Recessive (2;5)
0.472 2019-08-15
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 Lps2 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
TC ⇒ T small deletion
[records 1 to 2 of 2]