Phenotypic Mutations

31 mutations affecting 28 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 31 of 31] 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 Sppl2a abra2 2 126890391-126933235 bp (-) 126920313 Autosomal Recessive  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
2 APN Atp11c ambrosius X 60223290-60592698 bp (-) 36608577 X-linked Recessive  anemia
decrease in B cells
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
3 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Autosomal Recessive  digestive/alimentary
hearing/vestibular/ear
renal/urinary system
4 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive  adipose tissue
growth/size
increase in body weight
5 UTSW Adamts20 buckeye 15 94270163-94465418 bp (-) 94341087 Autosomal Recessive  pigmentation
skin/coat/nails
6 UTSW
has photo
Tyrp1 ca-los 4 80834123-80851719 bp (+) 80844868 Autosomal Recessive  pigmentation
skin/coat/nails
7 UTSW Jak3 citron 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive  cellular phenotype
hematopoietic system
immune system
increase in B cells
increase in B:T cells
increase in IgD+ B cells
increase in IgM+ B cells
8 UTSW Rims4 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive  decrease in body weight
growth/size
9 UTSW Slc45a2 galak 15 11000721-11029233 bp (+) 11012667 Autosomal Recessive  pigmentation
skin/coat/nails
10 UTSW Cd22 gansu 7 30865402-30880342 bp (-) 30870105 Autosomal Recessive  decrease in B:T cells
decrease in B2 cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in B1a cells
11 UTSW Irf8 Gemini 8 120736358-120756694 bp (+) 120743883 Autosomal Semidominant  cellular phenotype
decrease in CD8+ T cells
decrease in response to injected CpG DNA
immune system
MCMV susceptibility
12 UTSW
has photo
Ednrb gus-gus 14 103814625-103844173 bp (-) 103820013 Autosomal Recessive  lethality-postnatal
pigmentation
skin/coat/nails
13 UTSW Tg ito 15 66670753-66850721 bp (+) 66766162 Autosomal Recessive  decrease in body weight
14 UTSW Lck lockdown 4 129548349-129573641 bp (-) 129558127 Autosomal Recessive  decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
increase in B:T cells
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in CD8+ T cells
increase in CD8+ T cells in CD3+ T cells
15 UTSW
has photo
Tmprss6 masquerade 15 78439668-78468634 bp (-) 78468000 Autosomal Recessive  hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
16 UTSW Myo5a naoki 9 75071015-75223688 bp (+) 75161492 Autosomal Recessive  behavior/neurological
pigmentation
skin/coat/nails
17 UTSW
has photo
Adamts20 nidoking 15 94270163-94465418 bp (-) 94403445 Autosomal Recessive  pigmentation
skin/coat/nails
18 UTSW Nlrp3 Park2 11 59541568-59566955 bp (+) 59565128 Autosomal Semidominant  immune system
NALP3 inflammasome signaling defect
19 UTSW Nlrp3 Park7 11 59541568-59566955 bp (+) 59548010 Autosomal Semidominant  NLRP3 inflammasome: low response
20 UTSW Nos3 paul 5 24364810-24384474 bp (+) 24372704 Autosomal Recessive  DSS: sensitive day 7
21 UTSW Col6a2 piddling 10 76595762-76623630 bp (-) 76608106 Autosomal Recessive  decrease in body weight
growth/size
22 UTSW Vldlr r26 19 27216484-27254231 bp (+) 27245654 Autosomal Recessive  vision/eye
23 UTSW Ifnar1 shook 16 91485238-91507441 bp (+) 91499537 Autosomal Recessive  impaired response to dsDNA- type I IFN production by macrophages
24 UTSW Myo5a silver_decerebrate_2 9 75071015-75223688 bp (+) 75211127 Autosomal Recessive  behavior/neurological
lethality-postnatal
life span-post-weaning/aging
nervous system
pigmentation
skin/coat/nails
25 UTSW
has photo
Oca2 snowflake 7 56239760-56536517 bp (+) 56324680 Autosomal Recessive  pigmentation
skin/coat/nails
26 UTSW
has video
Pcdh15 sphere 10 73099342-74649737 bp (+) 74624284 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
27 UTSW
has photo
Fgf5 splinter 5 98254184-98277030 bp (+) 98261987 Autosomal Recessive  skin/coat/nails
28 UTSW
has photo
Atp7a Tigrou-like X 106027276-106124926 bp (+) 106105250 X-linked Dominant  lethality-embryonic/perinatal
pigmentation
skin/coat/nails
29 UTSW Tub troy 7 109010825-109034460 bp (+) 109020954 Autosomal Recessive  adipose tissue
Circadian defect: increase in circadian tau activity onset
growth/size
increase in body weight
30 UTSW Flt3 warmflash 5 147330741-147400489 bp (-) 147366918 Autosomal Recessive  decrease in NK cell response
decrease in NK cells
growth/size
hematopoietic system
immune system
MCMV susceptibility
31 UTSW
has photo
Pax3 Widget 1 78101267-78197134 bp (-) 78122590 Unknown  pigmentation
skin/coat/nails
[records 1 to 31 of 31]