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 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 Dock2 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive (6;45) OVA-specific IgE - increased
total IgE level - increased
2 UTSW
has photo
Rc3h1 curlyfry 1 160906418-160974978 bp (+) 160959399 Unknown (1;0)
Autosomal Recessive (3;16)

Autosomal Semidominant (4;17)
Body Weight - decreased
growth/size
limbs/digits/tail phenotype
3 UTSW Ern2 ernie3 7 122169893-122186216 bp (-) 122173819 Autosomal Recessive (2;6) DSS: sensitive day 10
DSS: sensitive day 7
4 UTSW Itgb2 Joker 10 77530252-77565708 bp (+) 77549849 Unknown (2;0) hematopoietic system
immune system
NK cell response - decreased
5 UTSW
has photo
Tmprss6 mask 15 78439668-78468634 bp (-) 78464455 Unknown embryogenesis
growth/size
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
6 UTSW Chrne pip-squeak 11 70614883-70619216 bp (-) 70615130 Autosomal Recessive (10;76) growth/size
7 UTSW
has video
Agtpbp1 rio 13 59449537-59585227 bp (-) 59525241 Unknown behavior/neurological
nervous system
8 UTSW Jak3 thistle 8 71676296-71690575 bp (+) 71685383 Autosomal Recessive (30;309) B cells - decreased
B:T cells - decreased
B1 cells - decreased
CD11c+ DCs - increased
CD4:CD8 - increased
CD4+ T cells - decreased
CD44 MFI in T cells - increased
CD44+ T cells - decreased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
effector memory CD8 T cells in CD8 T cells - increased
IgD+ B cells - decreased
IgM+ B cells - decreased
immune system
macrophages - increased
naive CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
NK cells - decreased
ratio of OVA-specific IgE over the total IgE - increased
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-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
9 UTSW Tirap torpid 9 35184551-35200291 bp (-) 35198707 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
[records 1 to 9 of 9]