Phenotypic Mutations

15 mutations affecting 15 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 15 of 15] 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?

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1 APN Atp11c 18nih30a X 60223290-60592698 bp (-) 36608577 Unknown anemia
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
2 UTSW
has photo
Hps3 blue 3 19995945-20035315 bp (-) 20030796 Autosomal Semidominant (1;1) pigmentation
skin/coat/nails
3 UTSW
has video
Myo7a coward 7 98051060-98119524 bp (-) 98085466 Autosomal Recessive (3;17) behavior/neurological
Circadian rhythm
Circadian Tau Activity Onset - decreased
Circadian Tau DD by eye - decreased
hearing/vestibular/ear
4 UTSW
has photo
Sox10 Dalmatian 15 79154913-79164490 bp (-) 79163324 Unknown pigmentation
skin/coat/nails
5 UTSW Itk goodnow 11 46325150-46389515 bp (-) 46338099 Autosomal Recessive (19;163) FACS B cells - increased
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS IgD+ B cell percentage - increased
FACS IgM+ B cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
total IgE level - increased
6 UTSW Rel Horus 11 23741514-23770970 bp (-) 23753215 Autosomal Recessive (9;53)
Autosomal Semidominant (6;29)
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - increased
immune system
ratio of OVA-specific IgE over the total IgE - increased
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
7 UTSW
has photo
Rab27a ivan 9 73044854-73098501 bp (+) 73075544 Unknown (1;0) pigmentation
skin/coat/nails
8 UTSW Map3k8 juicy 18 4331327-4353015 bp (-) 4339552 Autosomal Recessive (2;7) immune system
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
9 UTSW Ltbr kama 6 125306571-125313885 bp (-) 125313388 Autosomal Recessive (5;28) FACS B:T cells - increased
FACS IgD MFI - decreased
FACS T cells - decreased
immune system
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to rSFV
10 UTSW Ifnar1 macro-1 16 91485238-91507441 bp (+) 91499885 Unknown (1;0) adenovirus infection of macrophages - increased
immune system
influenza proliferation in macrophages - increased
MCMV proliferation in macrophages - increased
MCMV susceptibility
RVFV proliferation in macrophages - increased
11 UTSW
has photo
Adamts20 Meowth 15 94270163-94465418 bp (-) 94331458 Autosomal Recessive (1;1)
Autosomal Semidominant (2;8)
immune system
pigmentation
skin/coat/nails
T-dependent humoral response defect- increased antibody response to OVA+ alum immunization
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: TNF production by macrophages
12 UTSW Krt33a Polished 11 100011195-100016212 bp (-) 100012611 Unknown skin/coat/nails
13 UTSW Pik3cd stinger 4 149649168-149702571 bp (-) 149657319 Autosomal Recessive (2;18) immune system
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
14 UTSW
has photo
Samd4 supermodel 14 46882854-47105811 bp (+) 47016337 Unknown adipose tissue
growth/size
homeostasis/metabolism
skeleton phenotype
15 UTSW Slc45a2 sweater 15 11000721-11029233 bp (+) 11012610 Unknown pigmentation
skin/coat/nails
[records 1 to 15 of 15]