Phenotypic Mutations

570 mutations affecting 274 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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1 UTSW
has photo
Slc45a2 zuckerkuss 15 11000721-11029233 bp (+) 11025935 Unknown pigmentation
skin/coat/nails
2 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
3 UTSW
has photo
Lfng zigzag 5 140607341-140615543 bp (+) 140612535 Unknown immune system
limbs/digits/tail phenotype
skeleton phenotype
4 UTSW Med30 zeitgeist 15 52712445-52730431 bp (+) 52712639 Unknown (1;0) cardiovascular system
hematopoietic system
life span-post-weaning/aging
NK cells - decreased
5 UTSW
has photo
Slc45a2 yuki 15 11000721-11029233 bp (+) 11001092 Unknown pigmentation
skin/coat/nails
6 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
7 UTSW Hr yuanxiao 14 70552212-70573548 bp (+) 70571448 Autosomal Recessive (1;4) skin/coat/nails
8 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
9 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
10 UTSW
has photo
a yellowbelly 2 154791402-155051012 bp (+) Unknown pigmentation
skin/coat/nails
11 APN Nfkb2 xander 19 46304737-46312090 bp (+) Unknown B cells - decreased
immune system
12 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
13 UTSW Sgk3 woolly 1 9798107-9900845 bp (+) 9886104 Unknown skin/coat/nails
14 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
15 UTSW Zfp318 Wonton 17 46383731-46420920 bp (+) 46409692 Autosomal Semidominant (4;24) IgD MFI in B cells - decreased
16 UTSW
has video
Atcay wobbley 10 81204508-81230833 bp (-) 81220573 Unknown behavior/neurological
nervous system
17 UTSW Agtpbp1 wobble 13 59449537-59585227 bp (-) 59474550 Autosomal Recessive (9;27) Body Weight - decreased
Rotarod time - decreased
18 APN Muc2 Winnie 7 141690340-141754693 bp (+) 141699460 Unknown DSS: sensitive
DSS: sensitive day 7
immune system
19 UTSW
has photo
Pax3 Widget 1 78101267-78197134 bp (-) 78122590 Unknown (1;0) pigmentation
skin/coat/nails
20 UTSW Oca2 whitemouse 7 56239760-56536517 bp (+) 56414431 Unknown pigmentation
skin/coat/nails
21 UTSW Adamts20 whitebelly 15 94270163-94465418 bp (-) Unknown pigmentation
skin/coat/nails
22 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
23 UTSW Lepr well-upholstered 4 101717404-101815352 bp (+) 101772959 Unknown adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
24 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
25 UTSW Pax1 wavy 2 147361925-147393295 bp (+) 147365802 Unknown (1;0)
Autosomal Semidominant (3;12)
limbs/digits/tail phenotype
26 UTSW
has photo
Adam17 wavedx 12 21323509-21373632 bp (-) 21340750 Unknown DSS: sensitive
skin/coat/nails
vision/eye
27 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
28 UTSW
has photo
Adamts20 wash 15 94270163-94465418 bp (-) 94347670 Autosomal Recessive (1;7) pigmentation
skin/coat/nails
29 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
30 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
31 UTSW Zap70 wanna3 1 36761798-36782818 bp (+) 36778218 Autosomal Recessive (25;438)
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
32 UTSW Zap70 wanna2 1 36761798-36782818 bp (+) 36781412 Autosomal Recessive (5;62) T-dependent humoral response defect- decreased antibody response to rSFV
33 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
34 UTSW Cd40lg walla X 57212143-57224042 bp (+) 57223465 Unknown (2;0) T-dependent humoral response defect- decreased antibody response to rSFV
35 UTSW
has photo
Tyr waffle 7 87427405-87493411 bp (-) 87493221 Autosomal Recessive (1;3) pigmentation
skin/coat/nails
36 UTSW Mapk3 wabasha 7 126759601-126765819 bp (+) 126763512 Autosomal Recessive (2;10) NLRP3 inflammasome: low response
37 UTSW
has photo
Lyst vulpix 13 13590409-13777440 bp (+) 13696794 Autosomal Recessive (6;23) pigmentation
skin/coat/nails
38 UTSW
has photo
Slc45a2 voldemort 15 11000721-11029233 bp (+) Unknown (1;0) pigmentation
skin/coat/nails
39 UTSW Ptpn6 Vermeil 6 124720707-124738714 bp (-) 124732950 Autosomal Recessive (3;15)
Autosomal Semidominant (6;34)
B cells - decreased
B1 cells - decreased
CD44 MFI in CD8 - increased
central memory CD8 T cells in CD8 T cells - increased
IgD MFI in B cells - decreased
IgD+ B cells - decreased
IgM MFI in B cells - decreased
IgM+ B cells - decreased
naive CD8 T cells in CD8 T cells - decreased
40 UTSW Trp53bp1 verily 2 121193281-121271407 bp (-) 121211313 Autosomal Recessive (1;6)
Autosomal Semidominant (1;4)
IgD MFI in B cells - decreased
41 UTSW
has photo
Egfr Velvet 11 16752203-16918158 bp (+) 16904399 Unknown (1;0) DSS: sensitive
immune system
lethality-embryonic/perinatal
skin/coat/nails
touch/vibrissae
vision/eye
42 UTSW Prkcb Untied 7 122288751-122634402 bp (+) 122582439 Unknown (1;0) immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
43 UTSW Klrb1c Unnatural 6 128778485-128789215 bp (-) 128784211 Unknown hematopoietic system
immune system
NK cells - decreased
44 UTSW Card11 unmodulated2 5 140872999-141000596 bp (-) 140883782 Autosomal Dominant (2;10)
Autosomal Recessive (9;108)

Autosomal Semidominant (4;47)
B:T cells - decreased
B1a cells in B1 cells - decreased
B1b cells in B1 cells - increased
B220 MFI in B cells - decreased
CD4+ T cells - increased
CD8+ T cells - increased
effector memory CD8 T cells in CD8 T cells - decreased
IgM MFI in B cells - increased
IgM+ B cells - decreased
NK T cells - increased
T cells - increased
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
45 APN Card11 unmodulated 5 140872999-141000596 bp (-) 140897997 Unknown CD8 response - decreased
hematopoietic system
immune system
NK cell response - decreased
NK cells - decreased
NK T cells - decreased
skin/coat/nails
46 UTSW Tlr3 Ultraman 8 45395665-45410608 bp (-) 45402981 Unknown (1;0)
Autosomal Semidominant (2;27)
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: hyposensitivity to poly I:C + IFNg
47 UTSW Clock uhr 5 76212177-76304548 bp (-) 76229554 Autosomal Recessive (2;7)
Autosomal Semidominant (1;6)
Body Weight - increased
48 UTSW
has video
Myo15 typhoon 11 60469339-60528369 bp (+) 60487425 Autosomal Dominant (1;7)
Autosomal Recessive (1;5)
behavior/neurological
49 UTSW
has video
Efnb3 turtle 11 69554092-69560205 bp (-) 69557283 Unknown (1;0) behavior/neurological
nervous system
50 UTSW Cd3e tumormouse 9 44998743-45009590 bp (-) 45006150 Unknown (1;0) hematopoietic system
immune system
51 UTSW Card11 Tumnus 5 140872999-141000596 bp (-) 140885945 Autosomal Semidominant (3;16) B1 cells - increased
B1a cells in B1 cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
52 UTSW Tub troy 7 109010825-109034460 bp (+) 109020954 Autosomal Recessive (7;34) adipose tissue
Body Weight - increased
Circadian defect: increase in circadian tau activity onset
growth/size
53 UTSW
has video
Esrp1 triaka 4 11331933-11386783 bp (-) 11379300 Unknown (1;0) behavior/neurological
hearing/vestibular/ear
nervous system
54 UTSW Scn8a Tremord 15 100870683-101045929 bp (+) 101013504 Unknown behavior/neurological
nervous system
55 UTSW Zap70 trebia 1 36761798-36782818 bp (+) 36781025 Unknown CD4+ T cells - decreased
CD8+ T cells - decreased
hematopoietic competition - disadvantage
immune system
56 UTSW
has video
Pcdh15 tortilla 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive (2;10) behavior/neurological
57 UTSW
has video
Myo6 torticollis 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive (4;15) behavior/neurological
hearing/vestibular/ear
nervous system
58 UTSW
has photo
Tgm3 tortellini 2 130012349-130050399 bp (+) 130024585 Unknown (1;0) immune system
RVFV susceptibility
skin/coat/nails
59 UTSW Tirap torpid 9 35184551-35200291 bp (-) 35198707 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
60 UTSW Gck tootsie 11 5900820-5950081 bp (-) 5909150 Unknown (2;0) 30 min GTT hyperglycemic
Pfizer: increase in 30 Min Glucose Residual
61 UTSW
has photo
Gk5 toku 9 96119362-96184608 bp (+) 96140629 Unknown (1;0)
Autosomal Recessive (1;4)
skin/coat/nails
62 UTSW
has photo
Hps5 toffee 7 46760466-46796064 bp (-) 46777075 Unknown (1;0) DSS: sensitive day 7
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
vision/eye
63 UTSW Tlr13 Tlr13rev1 X 106143204-106160493 bp (+) 106157377 Unknown normal phenotype
64 UTSW
has photo
Hps5 titan 7 46760466-46796064 bp (-) 46783469 Autosomal Dominant (2;19)
Autosomal Recessive (2;6)
pigmentation
skin/coat/nails
65 UTSW
has video
Dst tinsel 1 33908225-34308661 bp (+) 34164167 Unknown (2;0)
Autosomal Recessive (3;23)
behavior/neurological
66 APN Prkcb Tilcara 7 122288751-122634402 bp (+) 122595005 Unknown immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
67 UTSW
has photo
Atp7a Tigrou-like X 106027276-106124926 bp (+) 106105250 Unknown lethality-embryonic/perinatal
pigmentation
skin/coat/nails
68 UTSW
has photo
Atp7a Tigrou X 106027276-106124926 bp (+) 106088407 Unknown growth/size
lethality-embryonic/perinatal
lethality-postnatal
pigmentation
skin/coat/nails
69 UTSW Prkcb Tigris 7 122288751-122634402 bp (+) 122424977 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
70 APN Hnrnpll thunder 17 80029487-80062268 bp (-) 80053571 Unknown CD4+ T cells - decreased
CD8+ T cells - decreased
immune system
71 APN Cd4 thoth 6 124864692-124888221 bp (-) 124873140 Unknown CD4+ T cells - decreased
immune system
72 UTSW Jak3 thistle2 8 71676296-71690575 bp (+) 71685545 Autosomal Recessive (1;9) T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
73 UTSW Jak3 thistle 8 71676296-71690575 bp (+) 71685383 Autosomal Recessive (30;309) B cells - decreased
B:T cells - decreased
B1 cells - decreased
CD11c+ DCs - increased
CD4:CD8 - increased
CD4+ T cells - decreased
CD44 MFI in T cells - increased
CD44+ T cells - decreased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
effector memory CD8 T cells in CD8 T cells - increased
IgD+ B cells - decreased
IgM+ B cells - decreased
immune system
macrophages - increased
naive CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
NK cells - decreased
ratio of OVA-specific IgE over the total IgE - increased
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
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
74 UTSW
has photo
Kbtbd2 teeny 6 56777524-56797813 bp (-) 56780389 Unknown (1;0)
Autosomal Recessive (5;34)

Autosomal Semidominant (1;7)
30 min GTT hyperglycemic
Body Weight - decreased
growth/size
liver/biliary system
75 UTSW
has video
Mpz taz 1 171150711-171161130 bp (+) 171158810 Autosomal Recessive (1;4) behavior/neurological
nervous system
76 UTSW Gk5 tangyuan 9 96119362-96184608 bp (+) 96150797 Autosomal Dominant (1;5)
Autosomal Recessive (4;18)
B1b cells - decreased
skin/coat/nails
77 UTSW Adgrf5 sweetie 17 43389466-43459557 bp (+) 43450983 Autosomal Recessive (1;5) 30 min GTT hyperglycemic
78 UTSW Slc45a2 sweater 15 11000721-11029233 bp (+) 11012610 Unknown pigmentation
skin/coat/nails
79 UTSW Lyst Swallow 13 13590409-13777440 bp (+) 13757422 Autosomal Semidominant (2;11) immune system
phagocytosis in PECs - increased
80 UTSW Grid2 swagger 6 63255876-64668282 bp (+) 64395280 Unknown behavior/neurological
nervous system
81 UTSW Ighd surface2 12 113406604-113416324 bp (-) 113416041 Autosomal Recessive (4;18)
Autosomal Semidominant (1;5)
IgD MFI in B cells - decreased
IgD+ B cells - decreased
82 UTSW Ighd Surface 12 113406604-113416324 bp (-) 113416199 Autosomal Recessive (1;4)
Autosomal Semidominant (1;12)
IgD MFI in B cells - decreased
IgD+ B cells - decreased
83 UTSW
has photo
Samd4 supermodel 14 46882854-47105811 bp (+) 47016337 Unknown adipose tissue
growth/size
homeostasis/metabolism
skeleton phenotype
84 UTSW Bcl3 sunrise2 7 19808462-19822770 bp (-) 19809634 Autosomal Recessive (6;40) B1 cells - increased
CD4:CD8 - decreased
CD4+ T cells in CD3+ T cells - decreased
CD8+ T cells in CD3+ T cells - increased
IgD MFI in B cells - decreased
IgM MFI in B cells - increased
85 UTSW Bcl3 sunrise 7 19808462-19822770 bp (-) 19811580 Autosomal Dominant (1;5)
Autosomal Recessive (9;55)

Autosomal Semidominant (4;19)
B1 cells - increased
B1b cells in B1 cells - decreased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD44+ CD8 T cells - increased
CD8+ T cells - increased
central memory CD8 T cells in CD8 T cells - increased
IgD+ B cells - decreased
macrophages - increased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - decreased
86 UTSW Atp4a sublytic 7 30712209-30725535 bp (+) 30715800 Unknown hematopoietic system
87 UTSW Inpp5d styx 1 87620312-87720507 bp (+) 87669784 Unknown (1;0) CTL killing - decreased
growth/size
hematopoietic system
homeostasis/metabolism
immune system
life span-post-weaning/aging
respiratory system
88 UTSW Lck stromberg 4 129548349-129573641 bp (-) 129555640 Autosomal Recessive (13;138) B:T cells - increased
CD4:CD8 - decreased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - increased
DSS: resistant day 10
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
89 UTSW Pik3cd stinger 4 149649168-149702571 bp (-) 149657319 Autosomal Recessive (2;18) T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
90 UTSW Cngb1 stevie 8 95239045-95306585 bp (-) 95260130 Autosomal Recessive (3;24) eye: decrease in BM to ELM thickness
eye: decrease in BM to ILM thickness
eye: decrease in ONL thickness
vision/eye
91 UTSW Impdh1 steve 6 29200434-29216364 bp (-) 29204632 Autosomal Recessive (6;38)
Autosomal Semidominant (1;4)
eye: decrease in BM to ELM thickness
eye: decrease in BM to ILM thickness
eye: decrease in ONL thickness
vision/eye
92 UTSW Hps6 stamper-coat 19 46003478-46006173 bp (+) 46003836 Unknown DSS: sensitive day 7
pigmentation
skin/coat/nails
93 UTSW
has video
Pcdh15 squirm 10 73099342-74649737 bp (+) Unknown behavior/neurological
hearing/vestibular/ear
nervous system
94 UTSW Vldlr spotty 19 27216484-27254231 bp (+) 27238792 Autosomal Recessive (4;33) eye: chorioretinal lesions
eye: decrease in ONL thickness
eye: retinal cystic atrophy
vision/eye
95 UTSW Ednrb sposh 14 103814625-103844173 bp (-) 103821714 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
96 UTSW Adamts20 splotch2 15 94270163-94465418 bp (-) 94335561 Unknown pigmentation
skin/coat/nails
97 UTSW
has photo
Fgf5 splinter 5 98254184-98277030 bp (+) 98261987 Autosomal Recessive (2;9) skin/coat/nails
98 UTSW
has photo
Ptpn6 spin2 6 124720707-124738714 bp (-) 124732369 Unknown hematopoietic system
immune system
99 UTSW
has photo
Ptpn6 spin 6 124720707-124738714 bp (-) 124728559 Unknown hematopoietic system
immune system
100 UTSW
has photo
Krt33a Spikey 11 100011195-100016212 bp (-) 100011939 Unknown skin/coat/nails
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