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
 
Source question?
Photo question?
Gene question?
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Phenotypic Category question?
1 UTSW Trp53bp1 concur 2 121193281-121271407 bp (-) 121270319 Autosomal Recessive  decrease in IgD MFI in B cells
2 UTSW Mlkl necro 8 111311797-111338177 bp (-) 111312100 Autosomal Recessive  Macrophage necroptosis: low
3 UTSW Mlkl secro 8 111311797-111338177 bp (-) 111315567 Autosomal Recessive  Macrophage necroptosis: low
4 UTSW Card11 unmodulated2 5 140872999-141000596 bp (-) 140883782 Autosomal Recessive  decrease in B:T cells
decrease in B1a cells in B1 cells
decrease in B220 MFI in B cells
decrease in effector memory CD8 T cells in CD8 T cells
decrease in IgM+ B cells
increase in B1b cells in B1 cells
increase in CD4+ T cells
increase in CD8+ T cells
increase in IgM MFI in B cells
increase in NK T cells
increase in T cells
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]