Phenotypic Mutations

17 mutations affecting 17 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 17 of 17] 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
has video
Tomt add 7 101898373-101903785 bp (-) 101902129 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
nervous system
2 UTSW Itgax Adendritic 7 128129547-128150656 bp (+) 128148572 Autosomal Semidominant  decrease in CD11b+ DCs in CD11c+ cells
decrease in CD11c+ DCs
decrease in pDCs in CD11c+ cells
3 UTSW
has photo
Slc45a2 cardigan 15 11000721-11029233 bp (+) 11022172 Autosomal Recessive  pigmentation
skin/coat/nails
4 UTSW Myd88 Dani_alves 9 119335934-119341411 bp (-) 119337823 Autosomal Semidominant  TLR signaling defect: hyposensitivity to CpG
TLR signaling defect: hyposensitivity to R848
5 UTSW Tap2 date2 17 34203527-34216321 bp (+) 34214032 Autosomal Recessive  decrease in CD44 MFI in CD4
decrease in CD44+ CD8 T cells
decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
decrease in CTL killing dominant epitope
decrease in effector memory CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
increase in CD4:CD8
increase in CD4+ T cells
increase in CD4+ T cells in CD3+ T cells
increase in CD44 MFI in CD8
increase in central memory CD8 T cells in CD8 T cells
increase in naive CD4 T cells in CD4 T cells
increase in NK cells
6 UTSW
has photo
Spag9 dazzle 11 93996091-94126085 bp (+) 94093624 Autosomal Recessive  skin/coat/nails
7 UTSW
has photo
Msx2 duke 13 53466884-53473074 bp (-) 53468395 Autosomal Recessive  skin/coat/nails
vision/eye
8 UTSW Ern2 ernie3 7 122169893-122186216 bp (-) 122173819 Autosomal Recessive  DSS: sensitive day 10
DSS: sensitive day 7
9 UTSW
has photo
Tshr freckle 12 91400994-91540509 bp (+) 91538226 Autosomal Recessive  endocrine/exocrine gland
growth/size
10 UTSW
has video
Syt2 kringle 1 134646677-134762593 bp (+) 134747620 Autosomal Recessive  behavior/neurological
growth/size
lethality-postnatal
nervous system
11 UTSW Trp53bp1 lentil 2 121193281-121271407 bp (-) 121251868 Autosomal Recessive  decrease in CD4+ T cells
decrease in IgD MFI in B cells
decrease in T cells
increase in B:T cells
increase in CD44 MFI in T cells
12 UTSW Pappa2 Lilliputian 1 158711727-158980490 bp (-) 158716990 Autosomal Semidominant  decrease in body weight
growth/size
13 UTSW Lep potbelly2 6 29060220-29073877 bp (+) 29069090 Autosomal Recessive  growth/size
increase in body weight
14 UTSW Prf1 prime 10 61297836-61304263 bp (+) 61303722 Autosomal Recessive  MCMV susceptibility
15 UTSW
has photo
Tyr rufus 7 87427405-87493411 bp (-) 87492706 Autosomal Recessive  pigmentation
skin/coat/nails
16 UTSW Socs2 samson 10 95385362-95417180 bp (-) 95413081 Autosomal Recessive  growth/size
17 UTSW Cd22 yosemite 7 30865402-30880342 bp (-) 30869509 Autosomal Recessive  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in B1a cells in B1 cells
[records 1 to 17 of 17]