Phenotypic Mutations

535 mutations affecting 265 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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501 UTSW Trp53bp1 verily 2 121193281-121271407 bp (-) 121211313 Autosomal Recessive (1;6)
Autosomal Semidominant (1;4)
IgD MFI in B cells - decreased
502 UTSW
has photo
Slc45a2 voldemort 15 11000721-11029233 bp (+) Unknown (1;0) pigmentation
skin/coat/nails
503 UTSW
has photo
Lyst vulpix 13 13590409-13777440 bp (+) 13696794 Autosomal Recessive (6;23) pigmentation
skin/coat/nails
504 UTSW Mapk3 wabasha 7 126759601-126765819 bp (+) 126763512 Autosomal Recessive (2;10) NLRP3 inflammasome: low response
505 UTSW
has photo
Tyr waffle 7 87427405-87493411 bp (-) 87493221 Autosomal Recessive (1;3) pigmentation
skin/coat/nails
506 UTSW Cd40lg walla X 57212143-57224042 bp (+) 57223465 Unknown (2;0) T-dependent humoral response defect- decreased antibody response to rSFV
507 UTSW Zap70 wanna 1 36761798-36782818 bp (+) 36770983 Unknown CD4+ T cells - decreased
CD8+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
508 UTSW Zap70 wanna2 1 36761798-36782818 bp (+) 36781412 Autosomal Recessive (5;62) T-dependent humoral response defect- decreased antibody response to rSFV
509 UTSW Zap70 wanna3 1 36761798-36782818 bp (+) 36778218 Autosomal Recessive (24;433)
Autosomal Semidominant (1;4)
B cells - increased
B:T cells - increased
CD4:CD8 - increased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44+ CD4 T cells - decreased
CD44+ CD8 T cells - decreased
CD44+ T cells - decreased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
central memory CD4 T cells in CD4 T cells - increased
central memory CD8 T cells in CD8 T cells - increased
effector memory CD4 T cells in CD4 T cells - increased
effector memory CD8 T cells in CD8 T cells - increased
IgD+ B cells - increased
IgM+ B cells - increased
naive CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
OVA-specific IgE - decreased
T cells - decreased
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 (21;366) B:T cells - increased
CD4:CD8 - increased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
central memory CD4 T cells in CD4 T cells - increased
central memory CD8 T cells in CD8 T cells - increased
naive CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
T cells - decreased
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 Unknown (1;0) growth/size
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
NK cells - decreased
512 UTSW Zap70 waterfowl 1 36761798-36782818 bp (+) 36770811 Unknown (8;0) B:T cells - increased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD8+ T cells - decreased
T cells - decreased
513 UTSW
has photo
Adam17 wavedx 12 21323509-21373632 bp (-) 21340750 Unknown DSS: sensitive
skin/coat/nails
vision/eye
514 UTSW Pax1 wavy 2 147361925-147393295 bp (+) 147365802 Unknown (1;0)
Autosomal Semidominant (3;12)
limbs/digits/tail phenotype
515 UTSW Cd22 well 7 30865402-30880342 bp (-) 30877787 Unknown B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
516 UTSW Lepr Well-upholstered 4 101717404-101815352 bp (+) 101772959 Unknown adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
517 UTSW Cd8a wenzhou 6 71373427-71379171 bp (+) 71373872 Autosomal Recessive (5;44) CD4:CD8 - increased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
effector memory CD8 T cells in CD8 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
518 UTSW Adamts20 whitebelly 15 94270163-94465418 bp (-) Unknown pigmentation
skin/coat/nails
519 UTSW Oca2 whitemouse 7 56239760-56536517 bp (+) 56414431 Unknown pigmentation
skin/coat/nails
520 UTSW
has photo
Pax3 Widget 1 78101267-78197134 bp (-) 78122590 Unknown (1;0) pigmentation
skin/coat/nails
521 APN Muc2 Winnie 7 141690340-141754693 bp (+) 141699460 Unknown DSS: sensitive
DSS: sensitive day 7
immune system
522 UTSW
has video
Atcay wobbley 10 81204508-81230833 bp (-) 81220573 Unknown behavior/neurological
nervous system
523 UTSW Zfp318 Wonton 17 46383731-46420920 bp (+) 46409692 Autosomal Semidominant (4;24) IgD MFI in B cells - decreased
524 UTSW
has photo
Mbtps1 woodrat 8 119508156-119558761 bp (-) 119529030 Unknown (1;0) 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 Unknown skin/coat/nails
526 UTSW Ruvbl2 Worker 7 45421852-45438096 bp (-) 45431318 Unknown (2;0) CD4+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
527 APN Nfkb2 xander 19 46304737-46312090 bp (+) Unknown B cells - decreased
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 (3;8) 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 Unknown (1;0)
Autosomal Dominant (5;11)

Autosomal Recessive (4;14)


Autosomal Semidominant (6;17)
B cells - decreased
B1a cells in B1 cells - increased
IgD+ B cells - decreased
IgM+ B cells - decreased
531 UTSW Hr yuanxiao 14 70552212-70573548 bp (+) 70571448 Autosomal Recessive (1;4) skin/coat/nails
532 UTSW Ticam1 Yue 17 56269319-56276786 bp (-) 56271339 Unknown (1;0)
Autosomal Dominant (3;12)
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 Unknown pigmentation
skin/coat/nails
534 UTSW Med30 zeitgeist 15 52712445-52730431 bp (+) 52712639 Unknown (1;0) cardiovascular system
hematopoietic system
life span-post-weaning/aging
NK cells - decreased
535 UTSW
has photo
Lfng zigzag 5 140607341-140615543 bp (+) 140612535 Unknown immune system
limbs/digits/tail phenotype
skeleton phenotype
536 UTSW
has photo
Tmprss6 zorro 15 78439668-78468634 bp (-) 78464552 Unknown 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 Unknown pigmentation
skin/coat/nails
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