Phenotypic Mutations

14 mutations affecting 14 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 14 of 14] 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 APN Atp11c 18nih30a X 60223290-60592698 bp (-) 36608577 X-linked Recessive  anemia
decrease in B cells
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
2 UTSW
has photo
Hps3 blue 3 19995945-20035315 bp (-) 20030796 Unknown  pigmentation
skin/coat/nails
3 UTSW
has video
Myo7a coward 7 98051060-98119524 bp (-) 98085466 Autosomal Recessive  behavior/neurological
nervous system
4 UTSW
has photo
Sox10 Dalmatian 15 79154913-79164490 bp (-) 79163324 Autosomal Dominant  pigmentation
skin/coat/nails
5 UTSW Rel Horus 11 23741514-23770970 bp (-) 23753215 Autosomal Semidominant  decrease in B1 cells
decrease in naive CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
decrease in total IgE level
increase in CD4+ T cells
increase in CD44 MFI in T cells
increase in CD44+ CD4 T cells
increase in CD44+ T cells
increase in effector memory CD4 T cells in CD4 T cells
increase in effector memory CD8 T cells in CD8 T cells
increase in T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- increased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
6 UTSW
has photo
Rab27a ivan 9 73044854-73098501 bp (+) 73075544 Unknown  pigmentation
skin/coat/nails
7 UTSW Map3k8 juicy 18 4331327-4353015 bp (-) 4339552 Autosomal Recessive  TLR signaling defect: TNF production by macrophages
8 UTSW Ltbr kama 6 125306571-125313885 bp (-) 125313388 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
9 UTSW Ifnar1 macro-1 16 91485238-91507441 bp (+) 91499885 Autosomal Recessive  adenovirus infection of macrophages- increased
immune system
influenza proliferation in macrophages- increased
MCMV proliferation in macrophages- increased
MCMV susceptibility
RVFV proliferation in macrophages- increased
10 UTSW
has photo
Adamts20 meowth 15 94270163-94465418 bp (-) 94331458 Autosomal Recessive  pigmentation
skin/coat/nails
11 UTSW Krt33a Polished 11 100011195-100016212 bp (-) 100012611 Autosomal Dominant  skin/coat/nails
12 UTSW Pik3cd stinger 4 149649168-149702571 bp (-) 149657319 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
13 UTSW
has photo
Samd4 supermodel 14 46882854-47105811 bp (+) 47016337 Autosomal Recessive  adipose tissue
growth/size
homeostasis/metabolism
skeleton phenotype
14 UTSW Slc45a2 sweater 15 11000721-11029233 bp (+) 11012610 Autosomal Recessive  pigmentation
skin/coat/nails
[records 1 to 14 of 14]