Phenotypic Mutations

9 mutations affecting 9 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 9 of 9] per page Full List
Source question?
Photo question?
Gene question?
Allele question?
Chr question?
Chr Loc question?
Mode of Inheritance question?
Phenotypic Category question?
1 UTSW Dock2 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive  increase in OVA-specific IgE
increase in total IgE level
has photo
Rc3h1 curlyfry 1 160906418-160974978 bp (+) 160959399 Autosomal Recessive  decrease in body weight
limbs/digits/tail phenotype
3 UTSW Ern2 ernie3 7 122169893-122186216 bp (-) 122173819 Autosomal Recessive  DSS: sensitive day 10
DSS: sensitive day 7
4 UTSW Itgb2 Joker 10 77530252-77565708 bp (+) 77549849 Autosomal Semidominant  decrease in NK cell response
hematopoietic system
immune system
has photo
Tmprss6 mask 15 78439668-78468634 bp (-) 78464455 Autosomal Recessive  embryogenesis
hematopoietic system
iron deficiency
reproductive system
6 UTSW Chrne pip-squeak 11 70614883-70619216 bp (-) 70615130 Autosomal Recessive  growth/size
has video
Agtpbp1 rio 13 59449537-59585227 bp (-) 59525241 Autosomal Recessive  behavior/neurological
nervous system
8 UTSW Jak3 thistle 8 71676296-71690575 bp (+) 71685383 Autosomal Recessive  decrease in B cells
decrease in B:T cells
decrease in B1 cells
decrease in CD4+ T cells
decrease in CD44+ T cells
decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
decrease in IgD+ B cells
decrease in IgM+ B cells
decrease in naive CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
decrease in NK cells
decrease in T cells
decrease in total IgE level
immune system
increase in CD11c+ DCs
increase in CD4:CD8
increase in CD44 MFI in T cells
increase in effector memory CD8 T cells in CD8 T cells
increase in macrophages
increase in ratio of OVA-specific IgE over the total IgE
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
9 UTSW Tirap torpid 9 35184551-35200291 bp (-) 35198707 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
[records 1 to 9 of 9]