Phenotypic Mutations

511 mutations affecting 268 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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Source question?
Photo question?
Gene question?
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Phenotypic Category question?
501 APN Nfkb2 xander 19 46304737-46312090 bp (+) Autosomal Recessive  decrease in B cells
immune system
502 UTSW
has photo
a yellowbelly 2 154791402-155051012 bp (+) Unknown  pigmentation
skin/coat/nails
503 UTSW Malt1 yellowstone 18 65430963-65478823 bp (+) 65458200 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
504 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
505 UTSW Hr yuanxiao 14 70552212-70573548 bp (+) 70571448 Autosomal Recessive  skin/coat/nails
506 UTSW Ticam1 Yue 17 56269319-56276786 bp (-) 56271339 Autosomal Dominant  TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: hyposensitivity to poly I:C + IFNg
507 UTSW
has photo
Slc45a2 yuki 15 11000721-11029233 bp (+) 11001092 Autosomal Recessive  pigmentation
skin/coat/nails
508 UTSW Med30 zeitgeist 15 52712445-52730431 bp (+) 52712639 Autosomal Recessive  cardiovascular system
decrease in NK cells
hematopoietic system
life span-post-weaning/aging
509 UTSW
has photo
Lfng zigzag 5 140607341-140615543 bp (+) 140612535 Autosomal Recessive  immune system
limbs/digits/tail phenotype
skeleton phenotype
510 UTSW
has photo
Tmprss6 zorro 15 78439668-78468634 bp (-) 78464552 Autosomal Recessive  embryogenesis
growth/size
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
511 UTSW
has photo
Slc45a2 zuckerkuss 15 11000721-11029233 bp (+) 11025935 Autosomal Recessive  pigmentation
skin/coat/nails
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