Phenotypic Mutations

3 mutations affecting 1 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 3 of 3] per page Full List
 



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Verification Probability

Phenotypic Category

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1 UTSW Lck 0.000 iconoclast 4 129548344-129573641 bp (-) 129555604 Unknown (1;0) no linkage results 2018-01-05
Eva Marie Y. Moresco
CTL killing - decreased
DSS: resistant day 10
DSS: sensitive day 7
FACS CD8+ T cells - decreased
hematopoietic system
immune system
A ⇒ G missense probably damaging 1.000
2 UTSW Lck 0.000 lockdown 4 129548344-129573641 bp (-) 129558127 Autosomal Recessive (13;68)
Autosomal Semidominant (2;8)
0.955 2019-09-04
Katherine Timer
DSS: resistant day 10
DSS: sensitive day 7
FACS B:T cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD4+ T cells in CD3+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
post-MCMV FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
C ⇒ T missense probably damaging 1.000
3 UTSW Lck 0.000 stromberg 4 129548344-129573641 bp (-) 129555640 Autosomal Recessive (18;161) 0.961 2018-01-03
External Program
DSS: resistant day 10
DSS: sensitive day 7
FACS B cells - increased
FACS B:T cells - increased
FACS B1b cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS IgD+ B cell percentage - increased
FACS IgM+ B cells - increased
FACS macrophages - increased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ C missense probably damaging 1.000
[records 1 to 3 of 3]