Phenotypic Mutations

536 mutations affecting 267 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 537] next >> last >| per page Full List
 
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1 UTSW Kit Casper 5 75574916-75656722 bp (+) 75645875 Autosomal Dominant  hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
2 UTSW
has photo
Sox10 Dalmatian 15 79154913-79164490 bp (-) 79163324 Autosomal Dominant  pigmentation
skin/coat/nails
3 UTSW Tnf Dome 17 35199381-35202007 bp (-) 35201674 Autosomal Dominant  TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
4 UTSW Ank1 Hema6 8 22974844-23150497 bp (+) 23097638 Autosomal Dominant  anemia
5 UTSW
has photo
Sox10 Kat 15 79154913-79164490 bp (-) 79163319 Autosomal Dominant  pigmentation
skin/coat/nails
6 UTSW
has photo
Gja8 L1 3 96918863-96926020 bp (-) 96920197 Autosomal Dominant  vision/eye
7 UTSW Card11 May 5 140872999-141000596 bp (-) 140876495 Autosomal Dominant  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
8 UTSW
has photo
Gsdma3 Mr_magoo 11 98626360-98638226 bp (+) 98635919 Autosomal Dominant  skin/coat/nails
9 UTSW Tnf Panr1 17 35199381-35202007 bp (-) 35200204 Autosomal Dominant  immune system
TLR signaling defect: TNF production by macrophages
10 UTSW Nlrp3 Park3 11 59541568-59566955 bp (+) 59565850 Autosomal Dominant  NLRP3 inflammasome: low response
11 UTSW Nlrp3 Park4 11 59541568-59566955 bp (+) 59549531 Autosomal Dominant  NLRP3 inflammasome: low response
12 UTSW Nlrp3 Park6 11 59541568-59566955 bp (+) 59549036 Autosomal Dominant  NLRP3 inflammasome: low response
13 UTSW Nlrp3 Park8 11 59541568-59566955 bp (+) 59566199 Autosomal Dominant  NLRP3 inflammasome: low response
14 UTSW Tbk1 Pioneer 10 121546455-121586794 bp (-) 121578690 Autosomal Dominant  impaired response to dsDNA- type I IFN production by macrophages
lethality-embryonic/perinatal
15 UTSW
has photo
Krt25 Plush 11 99315516-99322951 bp (-) 99322635 Autosomal Dominant  skin/coat/nails
16 UTSW Krt33a Polished 11 100011195-100016212 bp (-) 100012611 Autosomal Dominant  skin/coat/nails
17 UTSW Krt33a Polished2 11 100011195-100016212 bp (-) 100015850 Autosomal Dominant  skin/coat/nails
18 UTSW
has video
Scn10a Possum 9 119608456-119719032 bp (-) 119638705 Autosomal Dominant  behavior/neurological
nervous system
19 UTSW Kit Pretty2 5 75574916-75656722 bp (+) 75649550 Autosomal Dominant  hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
20 UTSW Pik3r1 Rocket 13 101680563-101768217 bp (-) 101689444 Autosomal Dominant  decrease in B1 cells
decrease in B1a cells
decrease in B1a cells in B1 cells
decrease in B1b cells
decrease in B220 MFI in B cells
decrease in NK T cells
increase in B1b cells in B1 cells
increase in B2 cells
21 UTSW
has photo
Krt10 Rough-fur 11 99385254-99389364 bp (-) 99388818 Autosomal Dominant  skin/coat/nails
22 UTSW Inpp5d Sailing 1 87620312-87720507 bp (+) 87705964 Autosomal Dominant  decrease in IgM MFI in B cells
decrease in NK cells
23 UTSW Prkdc Screamer8 16 15637866-15842235 bp (+) 15719433 Autosomal Dominant  post-MCMV decrease in B1a cells in B1 cells
post-MCMV decrease in effector memory CD4 T cells in CD4 T cells
post-MCMV increase in B cells
post-MCMV increase in B1b cells in B1 cells
post-MCMV increase in IgD+ B cells
post-MCMV increase in IgM+ B cells
24 UTSW Krt25 Sinuous 11 99315516-99322951 bp (-) 99322630 Autosomal Dominant  skin/coat/nails
25 UTSW Syk Sisyphus 13 52583173-52648792 bp (+) 52640790 Autosomal Dominant  increase in NK cells
NLRP3 inflammasome: high response
26 UTSW
has photo
Krt33a Spikey 11 100011195-100016212 bp (-) 100011939 Autosomal Dominant  skin/coat/nails
27 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
28 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
29 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
30 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
31 UTSW Unc93b1 3d 19 3935186-3949340 bp (+) 3944168 Autosomal Recessive  decrease in response to injected CpG DNA
DSS: sensitive day 7
immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
32 UTSW
has photo
Rorb 4-limb_clasper 19 18930605-19111196 bp (-) 18983351 Autosomal Recessive  behavior/neurological
nervous system
33 UTSW
has photo
Lyst 50-cal 13 13590409-13777440 bp (+) 13708212 Autosomal Recessive  increase in effector memory CD4 T cells in CD4 T cells
increase in LPS-induced necroptosis
MCMV susceptibility
pigmentation
skin/coat/nails
34 UTSW Sppl2a abra 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
35 UTSW Sppl2a abra2 2 126890391-126933235 bp (-) 126920313 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
36 UTSW Edaradd achtung 13 12471209-12520450 bp (-) 12478497 Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
skin/coat/nails
37 UTSW Edar achtung2 10 58600789-58675654 bp (-) 58603163 Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
skin/coat/nails
38 UTSW
has video
Tomt add 7 101898373-101903785 bp (-) 101902129 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
nervous system
39 UTSW Cd8a alfalfa 6 71373427-71379171 bp (+) 71373728 Autosomal Recessive  decrease in CD8+ 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 effector memory CD8 T cells in CD8 T cells
MCMV susceptibility
post-MCMV decrease in CD8+ T cells
post-MCMV decrease in CD8+ T cells in CD3+ T cells
post-MCMV increase in CD4+ T cells in CD3+ T cells
40 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Autosomal Recessive  hematopoietic competition - disadvantage
immune system
41 UTSW Cd36 almond_joy 5 17781690-17888959 bp (-) 17813088 Autosomal Recessive  fasting hyperglycemia
42 UTSW Casp8 amontillado 1 58795374-58847503 bp (+) 58844770 Autosomal Recessive  decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in naive CD8 T cells in CD8 T cells
increase in CD11c+ DCs
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in CD8+ T cells in CD3+ 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 neutrophils
increase in NK cells
increase in NK T cells
43 UTSW Pik3r1 anubis 13 101680563-101768217 bp (-) 101702776 Autosomal Recessive  decrease in B cells
decrease in B:T cells
decrease in B1a cells in B1 cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in CD4+ T cells
increase in CD8+ T cells
increase in IgE response to a Cysteine Protease (Papain)
increase in OVA-specific IgE
increase in T cells
44 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Autosomal Recessive  digestive/alimentary
hearing/vestibular/ear
renal/urinary system
45 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive  adipose tissue
growth/size
increase in body weight
46 UTSW
has photo
Bicc1 artemis 10 70922832-71159700 bp (-) 71027954 Autosomal Recessive  homeostasis/metabolism
life span-post-weaning/aging
renal/urinary system
47 UTSW Fcer2a arum 8 3681737-3694174 bp (-) 3688796 Autosomal Recessive  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in CD11c+ DCs
increase in neutrophils
48 UTSW Eif2ak4 atchoum 2 118388618-118475234 bp (+) 118400653 Autosomal Recessive  adenovirus infection of macrophages- increased
immune system
MCMV proliferation in macrophages- increased
49 UTSW Traf3 bananasplit 12 111166370-111267153 bp (+) 111262036 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
50 UTSW
has photo
Grhl1 bandit 12 24572287-24617391 bp (+) 24578027 Autosomal Recessive  decrease in body weight
growth/size
skin/coat/nails
51 UTSW Gk5 barrener 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive  skin/coat/nails
52 UTSW
has photo
Frem1 bat 4 82897927-83052339 bp (-) 82983060 Autosomal Recessive  limbs/digits/tail phenotype
renal/urinary system
skin/coat/nails
vision/eye
53 UTSW
has photo
Mlph beau 1 90915085-90951142 bp (+) 90928122 Autosomal Recessive  pigmentation
skin/coat/nails
54 UTSW Ptprc belittle 1 138062861-138175708 bp (-) 138137493 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
hematopoietic system
immune system
55 UTSW Blk blaenka 14 63372837-63417187 bp (-) 63384002 Autosomal Recessive  increase in IgE response to a Cysteine Protease (Papain)
increase in total IgE level
56 UTSW Cd40 bluebonnet 2 165055627-165072948 bp (+) 165062301 Autosomal Recessive  increase in OVA-specific IgE
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
57 UTSW
has photo
Pah bronze 10 87521795-87584136 bp (+) 87570226 Autosomal Recessive  behavior/neurological
homeostasis/metabolism
pigmentation
skin/coat/nails
58 UTSW Malt1 bryce_canyon 18 65430963-65478823 bp (+) 65462915 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
59 UTSW Adamts20 buckeye 15 94270163-94465418 bp (-) 94341087 Autosomal Recessive  pigmentation
skin/coat/nails
60 UTSW Tlr4 bugsy 4 66827584-66930284 bp (+) 66839254 Autosomal Recessive  Macrophage necroptosis: high
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
61 UTSW
has photo
Ap3b1 bullet_gray 13 94358960-94566316 bp (+) 94451087 Autosomal Recessive  immune system
MCMV susceptibility
pigmentation
skin/coat/nails
62 UTSW Nfkbid bumble 7 30421732-30428746 bp (+) 30425411 Autosomal Recessive  decrease in B cells
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
63 UTSW
has photo
Dsg4 burrito 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive  skin/coat/nails
64 UTSW Blnk busy 19 40928927-40994535 bp (-) 40952391 Autosomal Recessive  decrease in B cells
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
65 UTSW Tyrp1 butter 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive  pigmentation
skin/coat/nails
66 UTSW
has photo
Tyrp1 ca-los 4 80834123-80851719 bp (+) 80844868 Autosomal Recessive  pigmentation
skin/coat/nails
67 UTSW Ptpn6 candle 6 124720707-124738714 bp (-) 124728419 Autosomal Recessive  decrease in B cells
decrease in B2 cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in B1 cells
increase in B1a cells
increase in B1a cells in B1 cells
increase in B1b cells
increase in CD11c+ DCs
increase in CD44 MFI in CD8
increase in macrophages
68 UTSW Dock2 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive  increase in OVA-specific IgE
increase in total IgE level
69 APN Dock8 captain_morgan 19 24999529-25202432 bp (+) 25127711 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
immune system
70 UTSW
has photo
Slc45a2 cardigan 15 11000721-11029233 bp (+) 11022172 Autosomal Recessive  pigmentation
skin/coat/nails
71 UTSW
has photo
Mmp14 cartoon 14 54431604-54441258 bp (+) 54439999 Autosomal Recessive  craniofacial
growth/size
lethality-embryonic/perinatal
life span-post-weaning/aging
reproductive system
vision/eye
72 UTSW Prkcq celina 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
73 UTSW Prkcq celina2 2 11172108-11301222 bp (+) 11226986 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
74 UTSW Zeb1 cellophane 18 5591860-5775467 bp (+) 5770554 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
75 UTSW Oca2 charbon 7 56239760-56536517 bp (+) 56316405 Autosomal Recessive  pigmentation
skin/coat/nails
76 UTSW
has photo
Lyst charlotte_gray 13 13590409-13777440 bp (+) 13602026 Autosomal Recessive  pigmentation
skin/coat/nails
77 UTSW
has photo
Lyst charzard 13 13590409-13777440 bp (+) 13647083 Autosomal Recessive  pigmentation
skin/coat/nails
78 UTSW
has photo
Slc45a2 cheng 15 11000721-11029233 bp (+) 11025868 Autosomal Recessive  pigmentation
skin/coat/nails
79 UTSW Fas cherry 19 34290659-34327770 bp (+) 34327140 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
decrease in T cells
increase in neutrophils
increase in NK cells
80 UTSW Rorc chestnut 3 94372831-94397839 bp (+) 94377609 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
81 UTSW
has photo
Tyrp1 chi 4 80834123-80851719 bp (+) 80840778 Autosomal Recessive  pigmentation
skin/coat/nails
82 UTSW Mc4r chubby 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive  adipose tissue
growth/size
83 UTSW Jak3 citron 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive  cellular phenotype
hematopoietic system
immune system
increase in B cells
increase in B:T cells
increase in IgD+ B cells
increase in IgM+ B cells
84 UTSW Themis cloudies 10 28668360-28883818 bp (+) 28761199 Autosomal Recessive  decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD8+ 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
decreased CTL killing
increase in B:T cells
increase in CD4+ T cells in CD3+ T cells
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in CD44+ CD8 T cells
increase in CD8+ T cells in CD3+ T cells
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
85 UTSW Prkdc clover 16 15637866-15842235 bp (+) 15702157 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
86 UTSW
has photo
Rab27a concrete 9 73044854-73098501 bp (+) 73082409 Autosomal Recessive  immune system
MCMV susceptibility
pigmentation
skin/coat/nails
87 UTSW Trp53bp1 concur 2 121193281-121271407 bp (-) 121270319 Autosomal Recessive  decrease in IgD MFI in B cells
88 UTSW
has photo
Oca2 cotton 7 56239760-56536517 bp (+) 56535968 Autosomal Recessive  skin/coat/nails
89 UTSW
has video
Myo7a coward 7 98051060-98119524 bp (-) 98085466 Autosomal Recessive  behavior/neurological
nervous system
90 UTSW Cd79a crab 7 24897381-24902197 bp (+) 24899175 Autosomal Recessive  decrease in B cells
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
91 UTSW Cd4 craw 6 124864692-124888221 bp (-) 124867746 Autosomal Recessive  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
92 UTSW
has video
Grid2 crawler 6 63255876-64668282 bp (+) 64429694 Autosomal Recessive  behavior/neurological
growth/size
nervous system
93 UTSW Cd22 crullers 7 30865402-30880342 bp (-) 30869883 Autosomal Recessive  decrease in B cells
decrease in B2 cells
decrease in IgD MFI in B cells
increase in B1a cells
increase in B1b cells
post-MCMV decrease in B cells
post-MCMV decrease in IgD+ B cells
post-MCMV decrease in IgM+ B cells
94 UTSW
has photo
Spink5 crusty2 18 43963235-44022501 bp (+) 43999935 Autosomal Recessive  immune system
skin/coat/nails
95 UTSW Tlr4 cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive  Macrophage necroptosis: low
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
96 UTSW Neurod1 cruz 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
97 UTSW Ltbp3 csp 19 5740904-5758532 bp (+) 5747688 Autosomal Recessive  craniofacial
growth/size
limbs/digits/tail phenotype
skeleton phenotype
98 UTSW
has photo
Tmprss6 cubone 15 78439668-78468634 bp (-) 78446657 Autosomal Recessive  growth/size
skin/coat/nails
99 UTSW
has video
Slc26a4 cul-de-sac 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
100 UTSW
has photo
Rc3h1 curlyfry 1 160906418-160974978 bp (+) 160959399 Autosomal Recessive  decrease in body weight
growth/size
limbs/digits/tail phenotype
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