Phenotypic Mutations

4 mutations affecting 3 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 4 of 4] 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
and
1 UTSW Trp53bp1 concur 2 121193281-121271407 bp (-) 121270319 Autosomal Dominant (1;4)
Autosomal Recessive (1;4)
30 Min. Insulin (Male) - decreased
FACS IgD MFI - decreased
immune system
2 UTSW Mlkl necro 8 111311797-111338177 bp (-) 111312100 Autosomal Recessive (2;34) immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
3 UTSW Mlkl secro 8 111311797-111338177 bp (-) 111315567 Autosomal Recessive (2;27) immune system
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
TLR signaling defect: hypersensitivity to CpG + IFNg
4 UTSW Card11 unmodulated2 5 140872999-141000596 bp (-) 140883782 Autosomal Dominant (2;10)
Autosomal Recessive (9;108)

Autosomal Semidominant (4;47)
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B:T cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS NK T cells - increased
FACS T cells - increased
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
[records 1 to 4 of 4]