Phenotypic Mutations

511 mutations affecting 268 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 511] next >> last >| 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 photo
Slc45a2 zuckerkuss 15 11000721-11029233 bp (+) 11025935 Autosomal Recessive  pigmentation
skin/coat/nails
2 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
3 UTSW
has photo
Lfng zigzag 5 140607341-140615543 bp (+) 140612535 Autosomal Recessive  immune system
limbs/digits/tail phenotype
skeleton phenotype
4 UTSW Med30 zeitgeist 15 52712445-52730431 bp (+) 52712639 Autosomal Recessive  cardiovascular system
decrease in NK cells
hematopoietic system
life span-post-weaning/aging
5 UTSW
has photo
Slc45a2 yuki 15 11000721-11029233 bp (+) 11001092 Autosomal Recessive  pigmentation
skin/coat/nails
6 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
7 UTSW Hr yuanxiao 14 70552212-70573548 bp (+) 70571448 Autosomal Recessive  skin/coat/nails
8 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
9 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
10 UTSW
has photo
a yellowbelly 2 154791402-155051012 bp (+) Unknown  pigmentation
skin/coat/nails
11 APN Nfkb2 xander 19 46304737-46312090 bp (+) Autosomal Recessive  decrease in B cells
immune system
12 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
13 UTSW Sgk3 woolly 1 9798107-9900845 bp (+) 9886104 Autosomal Recessive  skin/coat/nails
14 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
15 UTSW Zfp318 Wonton 17 46383731-46420920 bp (+) 46409692 Autosomal Semidominant  decrease in IgD MFI in B cells
16 UTSW
has video
Atcay wobbley 10 81204508-81230833 bp (-) 81220573 Autosomal Recessive  behavior/neurological
nervous system
17 APN Muc2 Winnie 7 141690340-141754693 bp (+) 141699460 Autosomal Semidominant  DSS: sensitive
DSS: sensitive day 7
immune system
18 UTSW
has photo
Pax3 Widget 1 78101267-78197134 bp (-) 78122590 Unknown  pigmentation
skin/coat/nails
19 UTSW Oca2 whitemouse 7 56239760-56536517 bp (+) 56414431 Autosomal Recessive  pigmentation
skin/coat/nails
20 UTSW Adamts20 whitebelly 15 94270163-94465418 bp (-) Autosomal Recessive  pigmentation
skin/coat/nails
21 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
22 UTSW Lepr Well-upholstered 4 101717404-101815352 bp (+) 101772959 Autosomal Semidominant  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
reproductive system
23 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
24 UTSW Pax1 wavy 2 147361925-147393295 bp (+) 147365802 Autosomal Recessive  limbs/digits/tail phenotype
25 UTSW
has photo
Adam17 wavedx 12 21323509-21373632 bp (-) 21340750 Autosomal Recessive  DSS: sensitive
skin/coat/nails
vision/eye
26 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
27 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
28 UTSW Zap70 wanna2 1 36761798-36782818 bp (+) 36781412 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
29 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
30 UTSW Cd40lg walla X 57212143-57224042 bp (+) 57223465 X-linked Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
31 UTSW
has photo
Tyr waffle 7 87427405-87493411 bp (-) 87493221 Autosomal Recessive  pigmentation
skin/coat/nails
32 UTSW Mapk3 wabasha 7 126759601-126765819 bp (+) 126763512 Autosomal Recessive  NLRP3 inflammasome: low response
33 UTSW
has photo
Lyst vulpix 13 13590409-13777440 bp (+) 13696794 Autosomal Recessive  pigmentation
skin/coat/nails
34 UTSW
has photo
Slc45a2 voldemort 15 11000721-11029233 bp (+) Autosomal Recessive  pigmentation
skin/coat/nails
35 UTSW
has photo
Egfr Velvet 11 16752203-16918158 bp (+) 16904399 Autosomal Dominant  DSS: sensitive
immune system
lethality-embryonic/perinatal
skin/coat/nails
touch/vibrissae
vision/eye
36 UTSW Prkcb Untied 7 122288751-122634402 bp (+) 122582439 Autosomal Dominant  immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
37 UTSW Klrb1c Unnatural 6 128778485-128789215 bp (-) 128784211 Autosomal Semidominant  decrease in NK cells
hematopoietic system
immune system
38 UTSW Card11 unmodulated2 5 140872999-141000596 bp (-) 140883782 Autosomal Recessive  decrease in B:T cells
decrease in B1a cells in B1 cells
decrease in B220 MFI in B cells
decrease in effector memory CD8 T cells in CD8 T cells
decrease in IgM+ B cells
increase in B1b cells in B1 cells
increase in CD4+ T cells
increase in CD8+ T cells
increase in IgM MFI in B cells
increase in NK T cells
increase in T cells
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
39 APN Card11 unmodulated 5 140872999-141000596 bp (-) 140897997 Autosomal Recessive  decrease in CD8 response
decrease in NK cell response
decrease in NK cells
decrease in NK T cells
hematopoietic system
immune system
skin/coat/nails
40 UTSW Tlr3 Ultraman 8 45395665-45410608 bp (-) 45402981 Autosomal Semidominant  TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: hyposensitivity to poly I:C + IFNg
41 UTSW Clock uhr 5 76212177-76304548 bp (-) 76229554 Autosomal Recessive  increase in body weight
42 UTSW
has video
Myo15 typhoon 11 60469339-60528369 bp (+) 60487425 Autosomal Recessive  behavior/neurological
43 UTSW
has video
Efnb3 turtle 11 69554092-69560205 bp (-) 69557283 Autosomal Recessive  behavior/neurological
nervous system
44 UTSW Cd3e tumormouse 9 44998743-45009590 bp (-) 45006150 Autosomal Recessive  hematopoietic system
immune system
45 UTSW Card11 Tumnus 5 140872999-141000596 bp (-) 140885945 Autosomal Semidominant  increase in B1 cells
46 UTSW Tub troy 7 109010825-109034460 bp (+) 109020954 Autosomal Recessive  adipose tissue
growth/size
increase in body weight
47 UTSW
has video
Esrp1 triaka 4 11331933-11386783 bp (-) 11379300 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
nervous system
48 UTSW Scn8a Tremord 15 100870683-101045929 bp (+) 101013504 Autosomal Semidominant  behavior/neurological
nervous system
49 UTSW Zap70 trebia 1 36761798-36782818 bp (+) 36781025 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
hematopoietic competition - disadvantage
immune system
50 UTSW
has video
Pcdh15 tortilla 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive  behavior/neurological
51 UTSW
has video
Myo6 torticollis 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
nervous system
52 UTSW
has photo
Tgm3 tortellini 2 130012349-130050399 bp (+) 130024585 Autosomal Recessive  immune system
RVFV susceptibility
skin/coat/nails
53 UTSW Tirap torpid 9 35184551-35200291 bp (-) 35198707 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
54 UTSW
has photo
Hps5 toffee 7 46760466-46796064 bp (-) 46777075 Autosomal Recessive  DSS: sensitive day 7
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
vision/eye
55 UTSW Tlr13 Tlr13rev1 X 106143204-106160493 bp (+) 106157377 Unknown  normal phenotype
56 UTSW
has photo
Hps5 titan 7 46760466-46796064 bp (-) 46783469 Autosomal Recessive  pigmentation
skin/coat/nails
57 UTSW
has video
Dst tinsel 1 33908225-34308661 bp (+) 34164167 Autosomal Recessive  behavior/neurological
58 APN Prkcb Tilcara 7 122288751-122634402 bp (+) 122595005 Autosomal Semidominant  immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
59 UTSW
has photo
Atp7a Tigrou-like X 106027276-106124926 bp (+) 106105250 X-linked Dominant  lethality-embryonic/perinatal
pigmentation
skin/coat/nails
60 UTSW
has photo
Atp7a Tigrou X 106027276-106124926 bp (+) 106088407 X-linked Dominant  growth/size
lethality-embryonic/perinatal
lethality-postnatal
pigmentation
skin/coat/nails
61 UTSW Prkcb Tigris 7 122288751-122634402 bp (+) 122424977 Autosomal Semidominant  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
62 APN Hnrnpll thunder 17 80029487-80062268 bp (-) 80053571 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
immune system
63 APN Cd4 thoth 6 124864692-124888221 bp (-) 124873140 Autosomal Recessive  decrease in CD4+ T cells
immune system
64 UTSW Jak3 thistle2 8 71676296-71690575 bp (+) 71685545 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
65 UTSW Jak3 thistle 8 71676296-71690575 bp (+) 71685383 Autosomal Recessive  decrease in B cells
decrease in B:T cells
decrease in B1 cells
decrease in CD4+ T cells
decrease in CD44+ T cells
decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
decrease in IgD+ B cells
decrease in IgM+ B cells
decrease in naive CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
decrease in NK cells
decrease in T cells
decrease in total IgE level
immune system
increase in CD11c+ DCs
increase in CD4:CD8
increase in CD44 MFI in T cells
increase in effector memory CD8 T cells in CD8 T cells
increase in macrophages
increase in ratio of OVA-specific IgE over the total IgE
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
66 UTSW
has photo
Kbtbd2 teeny 6 56777524-56797813 bp (-) 56780389 Autosomal Recessive  30 min GTT hyperglycemic
decrease in body weight
growth/size
liver/biliary system
67 UTSW Gpr116 sweetie 17 43389466-43459557 bp (+) 43450983 Autosomal Recessive  30 min GTT hyperglycemic
68 UTSW Slc45a2 sweater 15 11000721-11029233 bp (+) 11012610 Autosomal Recessive  pigmentation
skin/coat/nails
69 UTSW Lyst Swallow 13 13590409-13777440 bp (+) 13757422 Autosomal Semidominant  immune system
increase in phagocytosis in PECs
70 UTSW Grid2 swagger 6 63255876-64668282 bp (+) 64395280 Autosomal Recessive  behavior/neurological
nervous system
71 UTSW Ighd surface2 12 113406604-113416324 bp (-) 113416041 Autosomal Recessive  decrease in IgD MFI in B cells
72 UTSW Ighd Surface 12 113406604-113416324 bp (-) 113416199 Autosomal Semidominant  decrease in IgD MFI in B cells
decrease in IgD+ B cells
73 UTSW
has photo
Samd4 supermodel 14 46882854-47105811 bp (+) 47016337 Autosomal Recessive  adipose tissue
growth/size
homeostasis/metabolism
skeleton phenotype
74 UTSW Bcl3 sunrise 7 19808462-19822770 bp (-) 19811580 Autosomal Recessive  decrease in IgD+ B cells
decrease in total IgE level
increase in B1 cells
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in macrophages
increase in ratio of OVA-specific IgE over the total IgE
T-dependent humoral response defect- decreased antibody response to rSFV
75 UTSW Atp4a sublytic 7 30712209-30725535 bp (+) 30715800 Autosomal Recessive  hematopoietic system
76 UTSW Inpp5d styx 1 87620312-87720507 bp (+) 87669784 Autosomal Recessive  decrease in CD8 response
growth/size
hematopoietic system
homeostasis/metabolism
immune system
life span-post-weaning/aging
respiratory system
77 UTSW Lck stromberg 4 129548349-129573641 bp (-) 129555640 Autosomal Recessive  decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in CD8+ T cells
decrease in T cells
DSS: resistant day 10
increase in B:T cells
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD8+ T cells in CD3+ T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
78 UTSW Pik3cd stinger 4 149649168-149702571 bp (-) 149657319 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
79 UTSW Cngb1 stevie 8 95239045-95306585 bp (-) 95260130 Autosomal Recessive  eye: decrease in BM to ELM thickness
eye: decrease in BM to ILM thickness
eye: decrease in ONL thickness
vision/eye
80 UTSW Impdh1 steve 6 29200434-29216364 bp (-) 29204632 Autosomal Recessive  eye: decrease in BM to ELM thickness
eye: decrease in BM to ILM thickness
eye: decrease in ONL thickness
vision/eye
81 UTSW Hps6 stamper-coat 19 46003478-46006173 bp (+) 46003836 Autosomal Recessive  DSS: sensitive day 7
pigmentation
skin/coat/nails
82 UTSW
has video
Pcdh15 squirm 10 73099342-74649737 bp (+) Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
nervous system
83 UTSW Adamts20 splotch2 15 94270163-94465418 bp (-) 94335561 Autosomal Recessive  pigmentation
skin/coat/nails
84 UTSW
has photo
Fgf5 splinter 5 98254184-98277030 bp (+) 98261987 Autosomal Recessive  skin/coat/nails
85 UTSW
has photo
Ptpn6 spin2 6 124720707-124738714 bp (-) 124732369 Autosomal Recessive  hematopoietic system
immune system
86 UTSW
has photo
Ptpn6 spin 6 124720707-124738714 bp (-) 124728559 Autosomal Recessive  hematopoietic system
immune system
87 UTSW
has photo
Krt33a Spikey 11 100011195-100016212 bp (-) 100011939 Autosomal Dominant  skin/coat/nails
88 UTSW Gimap5 sphinx 6 48746197-48754210 bp (+) 48752609 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8 response
decrease in CD8+ T cells
decrease in NK cell response
decrease in NK cells
decrease in NK T cells
hematopoietic system
immune system
inflammatory bowel disease phenotype
lethality-postnatal
life span-post-weaning/aging
liver/biliary system
MCMV susceptibility
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
89 UTSW
has video
Pcdh15 sphere 10 73099342-74649737 bp (+) 74624284 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
90 UTSW Atp11c spelling X 60223290-60592698 bp (-) 60290036 X-linked Recessive  decrease in B cells
hematopoietic system
homeostasis/metabolism
liver/biliary system
reproductive system
91 UTSW
has video
Pcdh15 spaz 10 73099342-74649737 bp (+) 74210425 Autosomal Recessive  behavior/neurological
92 UTSW
has photo
Mc4r Southbeach 18 66857715-66860472 bp (-) 66859142 Autosomal Semidominant  adipose tissue
growth/size
93 UTSW Lyst souris 13 13590409-13777440 bp (+) 13683224 Autosomal Recessive  decrease in NK cell response
hematopoietic system
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
94 UTSW Pik3ap1 sothe 19 41274218-41385070 bp (-) 41356683 Autosomal Recessive  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
95 UTSW Kcnj8 sos 6 142564939-142571356 bp (-) 142565927 Autosomal Recessive  cardiovascular system
homeostasis/metabolism
immune system
lethality-postnatal
TLR signaling defect: hypersensitivity to LPS
96 UTSW
has photo
Lyst sooty 13 13590409-13777440 bp (+) Autosomal Recessive  decrease in NK cell response
hematopoietic system
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
97 UTSW Pik3ap1 sooni 19 41274218-41385070 bp (-) 41327909 Autosomal Recessive  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
98 UTSW
has photo
Oca2 snowflake 7 56239760-56536517 bp (+) 56324680 Autosomal Recessive  pigmentation
skin/coat/nails
99 UTSW Dock8 snowdrop 19 24999529-25202432 bp (+) 25184941 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
100 UTSW Rag2 snowcock 2 101624718-101632529 bp (+) 101630603 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
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
[records 1 to 100 of 511] next >> last >|