Phenotypic Mutations

536 mutations affecting 267 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 UTSW Trp53bp1 verily 2 121193281-121271407 bp (-) 121211313 Autosomal Recessive  decrease in IgD MFI in B cells
502 UTSW
has photo
Slc45a2 voldemort 15 11000721-11029233 bp (+) Autosomal Recessive  pigmentation
skin/coat/nails
503 UTSW
has photo
Lyst vulpix 13 13590409-13777440 bp (+) 13696794 Autosomal Recessive  pigmentation
skin/coat/nails
504 UTSW Mapk3 wabasha 7 126759601-126765819 bp (+) 126763512 Autosomal Recessive  NLRP3 inflammasome: low response
505 UTSW
has photo
Tyr waffle 7 87427405-87493411 bp (-) 87493221 Autosomal Recessive  pigmentation
skin/coat/nails
506 UTSW Cd40lg walla X 57212143-57224042 bp (+) 57223465 X-linked Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
507 UTSW Zap70 wanna 1 36761798-36782818 bp (+) 36770983 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
T-dependent humoral response defect- decreased antibody response to rSFV
508 UTSW Zap70 wanna2 1 36761798-36782818 bp (+) 36781412 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
509 UTSW Zap70 wanna3 1 36761798-36782818 bp (+) 36778218 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in CD44+ CD4 T cells
decrease in CD44+ CD8 T cells
decrease in CD44+ T cells
decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
decrease in naive CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
decrease in OVA-specific IgE
decrease in T cells
increase in B cells
increase in B:T cells
increase in CD4:CD8
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in central memory CD4 T cells in CD4 T cells
increase in central memory CD8 T cells in CD8 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 IgD+ B cells
increase in IgM+ B cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
510 UTSW Zap70 wanna4 1 36761798-36782818 bp (+) 36781365 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
decrease in naive CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
decrease in T cells
increase in B:T cells
increase in CD4:CD8
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in central memory CD4 T cells in CD4 T cells
increase in central memory CD8 T cells in CD8 T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
511 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
512 UTSW Zap70 waterfowl 1 36761798-36782818 bp (+) 36770811 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in CD8+ T cells
decrease in T cells
increase in B:T cells
513 UTSW
has photo
Adam17 wavedx 12 21323509-21373632 bp (-) 21340750 Autosomal Recessive  DSS: sensitive
skin/coat/nails
vision/eye
514 UTSW Pax1 wavy 2 147361925-147393295 bp (+) 147365802 Autosomal Recessive  limbs/digits/tail phenotype
515 UTSW Cd22 well 7 30865402-30880342 bp (-) 30877787 Autosomal Recessive  decrease in B cells
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
516 UTSW Lepr Well-upholstered 4 101717404-101815352 bp (+) 101772959 Autosomal Semidominant  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
reproductive system
517 UTSW Cd8a wenzhou 6 71373427-71379171 bp (+) 71373872 Autosomal Recessive  decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
decrease in effector memory CD8 T cells in CD8 T cells
decrease in naive CD8 T cells in CD8 T cells
increase in CD4:CD8
518 UTSW Adamts20 whitebelly 15 94270163-94465418 bp (-) Autosomal Recessive  pigmentation
skin/coat/nails
519 UTSW Oca2 whitemouse 7 56239760-56536517 bp (+) 56414431 Autosomal Recessive  pigmentation
skin/coat/nails
520 UTSW
has photo
Pax3 Widget 1 78101267-78197134 bp (-) 78122590 Unknown  pigmentation
skin/coat/nails
521 APN Muc2 Winnie 7 141690340-141754693 bp (+) 141699460 Autosomal Semidominant  DSS: sensitive
DSS: sensitive day 7
immune system
522 UTSW
has video
Atcay wobbley 10 81204508-81230833 bp (-) 81220573 Autosomal Recessive  behavior/neurological
nervous system
523 UTSW Zfp318 Wonton 17 46383731-46420920 bp (+) 46409692 Autosomal Semidominant  decrease in IgD MFI in B cells
524 UTSW
has photo
Mbtps1 woodrat 8 119508156-119558761 bp (-) 119529030 Autosomal Recessive  DSS: sensitive
DSS: sensitive day 7
embryogenesis
homeostasis/metabolism
immune system
lethality-embryonic/perinatal
pigmentation
reproductive system
skin/coat/nails
525 UTSW Sgk3 woolly 1 9798107-9900845 bp (+) 9886104 Autosomal Recessive  skin/coat/nails
526 UTSW Ruvbl2 Worker 7 45421852-45438096 bp (-) 45431318 Autosomal Dominant  decrease in CD4+ T cells
T-dependent humoral response defect- decreased antibody response to rSFV
527 APN Nfkb2 xander 19 46304737-46312090 bp (+) Autosomal Recessive  decrease in B cells
immune system
528 UTSW
has photo
a yellowbelly 2 154791402-155051012 bp (+) Unknown  pigmentation
skin/coat/nails
529 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
530 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
531 UTSW Hr yuanxiao 14 70552212-70573548 bp (+) 70571448 Autosomal Recessive  skin/coat/nails
532 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
533 UTSW
has photo
Slc45a2 yuki 15 11000721-11029233 bp (+) 11001092 Autosomal Recessive  pigmentation
skin/coat/nails
534 UTSW Med30 zeitgeist 15 52712445-52730431 bp (+) 52712639 Autosomal Recessive  cardiovascular system
decrease in NK cells
hematopoietic system
life span-post-weaning/aging
535 UTSW
has photo
Lfng zigzag 5 140607341-140615543 bp (+) 140612535 Autosomal Recessive  immune system
limbs/digits/tail phenotype
skeleton phenotype
536 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
537 UTSW
has photo
Slc45a2 zuckerkuss 15 11000721-11029233 bp (+) 11025935 Autosomal Recessive  pigmentation
skin/coat/nails
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