Phenotypic Mutations

77 mutations affecting 64 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 77 of 77] per page Full List
 
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1 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
2 UTSW Edaradd achtung 13 12471209-12520450 bp (-) 12478497 Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
skin/coat/nails
3 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
4 UTSW Cd36 almond_joy 5 17781690-17888959 bp (-) 17813088 Autosomal Recessive  fasting hyperglycemia
5 UTSW Prkcb Almonde 7 122288751-122634402 bp (+) 122582449 Autosomal Semidominant  decrease in B1 cells
post-MCMV decrease in B1a cells in B1 cells
post-MCMV increase in B1b cells in B1 cells
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
6 UTSW Ptprc belittle 1 138062861-138175708 bp (-) 138137493 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
hematopoietic system
immune system
7 UTSW Mc4r Big_boned 18 66857715-66860472 bp (-) 66859488 Autosomal Semidominant  growth/size
increase in body weight
8 UTSW Ticam2 Branch 18 46559155-46574533 bp (-) 46560651 Autosomal Semidominant  TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
9 UTSW
has photo
Dsg4 burrito 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive  skin/coat/nails
10 UTSW
has photo
Lepr Business_class 4 101717404-101815352 bp (+) 101764872 Autosomal Semidominant  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
reproductive system
11 UTSW Tyrp1 butter 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive  pigmentation
skin/coat/nails
12 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
13 UTSW
has photo
Lyst charzard 13 13590409-13777440 bp (+) 13647083 Autosomal Recessive  pigmentation
skin/coat/nails
14 UTSW
has photo
Lepr Cherub 4 101717404-101815352 bp (+) 101768063 Autosomal Semidominant  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
reproductive system
15 UTSW
has photo
Oca2 cotton 7 56239760-56536517 bp (+) 56535968 Autosomal Recessive  skin/coat/nails
16 UTSW Tlr9 Cpg3 9 106222598-106226883 bp (+) 106224152 Autosomal Semidominant  decrease in response to injected CpG DNA
immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
17 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
18 UTSW
has video
Grid2 crawler 6 63255876-64668282 bp (+) 64429694 Autosomal Recessive  behavior/neurological
growth/size
nervous system
19 UTSW Lyn Cress 4 3678115-3813122 bp (+) 3789908 Autosomal Semidominant  decrease in B cells
decrease in B:T cells
decrease in B220 MFI in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in B1a cells
increase in B1a cells in B1 cells
increase in CD4+ T cells
increase in CD8+ 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
20 UTSW
has photo
Foxp3 crusty X 7579676-7595243 bp (+) 7592654 X-linked Recessive  growth/size
hematopoietic system
immune system
lethality-postnatal
limbs/digits/tail phenotype
reproductive system
skin/coat/nails
21 UTSW Tlr4 cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive  Macrophage necroptosis: low
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
22 UTSW Neurod1 cruz 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
23 UTSW
has video
Hcn2 curveball 10 79716634-79736108 bp (+) 79724786 Autosomal Recessive  behavior/neurological
decrease in body weight
decrease in CD8+ T cells in CD3+ T cells
increase in CD4:CD8
increase in CD4+ T cells in CD3+ T cells
24 UTSW Tap2 date 17 34203527-34216321 bp (+) 34212354 Autosomal Recessive  decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
increase in B:T cells
increase in CD4+ T cells in CD3+ T cells
increase in CD44 MFI in CD8
25 UTSW Themis death_valley 10 28668360-28883818 bp (+) 28668727 Autosomal Recessive  decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in naive CD4 T cells in CD4 T cells
decrease in T cells
increase in B:T cells
increase in CD44 MFI in CD4
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
26 UTSW Sell dim_sum 1 164061982-164084181 bp (+) 164066201 Autosomal Recessive  decrease in naive CD4 T cells in CD4 T cells
27 UTSW
has video
Slc26a4 discobolus 12 31519827-31559969 bp (-) 31540533 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
28 UTSW Stat1 domino 1 52119440-52161865 bp (+) 52140588 Autosomal Recessive  decrease in NK cell response
decrease in response to injected CpG DNA
immune system
MCMV proliferation in macrophages- increased
MCMV susceptibility
RVFV susceptibility
29 UTSW
has photo
Hps5 dorian_gray 7 46760466-46796064 bp (-) 46784145 Autosomal Recessive  pigmentation
skin/coat/nails
30 UTSW
has photo
Npr3 eel 15 11839896-11905674 bp (-) 11858647 Autosomal Recessive  growth/size
limbs/digits/tail phenotype
skeleton phenotype
31 UTSW
has photo
Tmprss6 ekans 15 78439668-78468634 bp (-) 78459427 Autosomal Recessive  skin/coat/nails
32 UTSW Slfn2 elektra 11 83065112-83070678 bp (+) 83069600 Autosomal Recessive  decrease in CD8 response
decrease in CD8+ T cells
decrease in NK T cells
hematopoietic system
immune system
MCMV susceptibility
33 UTSW Rab38 fenrir 7 88430273-88491466 bp (+) 88450541 Autosomal Recessive  pigmentation
34 UTSW
has photo
Ksr2 gigante 5 117414000-117775003 bp (+) 117671449 Autosomal Recessive  adipose tissue
growth/size
35 UTSW Pax5 glacier 4 44531145-44710487 bp (-) 44679494 Autosomal Recessive  decrease in B1b cells in B1 cells
increase in B1 cells
36 UTSW
has photo
Mc4r halloween 18 66857715-66860472 bp (-) 66859821 Autosomal Recessive  adipose tissue
growth/size
increase in body weight
37 UTSW Traf3 Hulk 12 111166370-111267153 bp (+) 111261576 Unknown  decrease in B 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
38 UTSW Immp2l imp 12 41024090-41955588 bp (+) 41110847 Autosomal Recessive  decrease in body weight
growth/size
39 UTSW Yipf6 Klein-zschocher X 98936316-98949017 bp (+) 98940782 Autosomal Semidominant  DSS: sensitive day 7
immune system
40 UTSW
has photo
Crygb L10 1 65080219-65082288 bp (-) 65082157 Autosomal Semidominant  vision/eye
41 UTSW Tlr2 languid 3 83836272-83841767 bp (-) 83837315 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
42 UTSW Tlr4 Lops 4 66827584-66930284 bp (+) 66833880 Autosomal Semidominant  NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
43 UTSW Tlr6 m2sd1 5 64953106-64960048 bp (-) 6540276 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
44 UTSW Rorc macadamias 3 94372831-94397839 bp (+) 94397302 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
45 UTSW
has video
Myo6 mayday_circler 9 80165031-80311729 bp (+) 80246451 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
nervous system
46 UTSW
has video
Pcdh15 mcduck 10 73099342-74649737 bp (+) 74626844 Unknown  behavior/neurological
47 UTSW Ticam2 Messi 18 46559155-46574533 bp (-) 46560922 Autosomal Semidominant  TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
48 UTSW Malt1 mousebird 18 65430963-65478823 bp (+) 65475260 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
49 UTSW Muc2 Muskatenwein 7 141690340-141754693 bp (+) 141753439 Autosomal Semidominant  DSS: sensitive
DSS: sensitive day 7
50 UTSW
has photo
Pkd2 Nephro 5 104459450-104505819 bp (+) 104486806 Unknown  renal/urinary system
51 UTSW Adgre1 Onion 17 57358686-57483529 bp (+) 57402841 Unknown  decrease in macrophages
52 UTSW Lepr paleo 4 101717404-101815352 bp (+) 101745645 Autosomal Recessive  adipose tissue
Circadian defect: increase in final body weight
Circadian rhythm
growth/size
increase in body weight
increase in body weight- female
53 UTSW Nlrp3 Park5 11 59541568-59566955 bp (+) 59548476 Autosomal Semidominant  NLRP3 inflammasome: low response
54 UTSW Dst phelps 1 33908225-34308661 bp (+) 34223795 Unknown  growth/size
55 UTSW
has photo
Rxra pinkie 2 27676440-27762957 bp (+) 27752334 Autosomal Recessive  hematopoietic system
immune system
pigmentation
skeleton phenotype
skin/coat/nails
vision/eye
56 UTSW Chrne pip-squeak 11 70614883-70619216 bp (-) 70615130 Autosomal Recessive  growth/size
57 UTSW Stat1 poison 1 52119440-52161865 bp (+) 52151225 Autosomal Recessive  decrease in NK cell response
immune system
MCMV susceptibility
58 UTSW Lep potbelly 6 29060220-29073877 bp (+) 29068972 Autosomal Recessive  adipose tissue
growth/size
increase in body weight
59 UTSW Plcg2 queen 8 117498291-117635140 bp (+) 117581707 Autosomal Recessive  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
60 UTSW Lyst robin 13 13590409-13777440 bp (+) 13648802 Unknown  pigmentation
skin/coat/nails
61 UTSW
has photo
Krt10 Rough-fur 11 99385254-99389364 bp (-) 99388818 Autosomal Dominant  skin/coat/nails
62 UTSW Tlr7 rsq2 X 167304929-167330558 bp (-) 167307945 X-linked Recessive  immune system
TLR signaling defect: TNF production by macrophages
63 UTSW
has photo
Dtnbp1 salt_and_pepper 13 44922079-45002096 bp (-) 44941438 Autosomal Recessive  decrease in NK cell response
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
64 UTSW Col1a1 seal 11 94936224-94953042 bp (+) 94947184 Autosomal Recessive  behavior/neurological
skeleton phenotype
65 UTSW Zeb1 serpens 18 5591860-5775467 bp (+) 5772455 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
66 UTSW Rhbdf2 sinecure 11 116598165-116627019 bp (-) 116602260 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
67 UTSW Itga11 sneezy 9 62677826-62783982 bp (+) 62732109 Autosomal Recessive  decrease in body weight
decrease in body weight- female
68 UTSW Pik3ap1 sothe 19 41274218-41385070 bp (-) 41356683 Autosomal Recessive  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
69 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
70 UTSW Hps6 stamper-coat 19 46003478-46006173 bp (+) 46003836 Autosomal Recessive  DSS: sensitive day 7
pigmentation
skin/coat/nails
71 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
72 UTSW Grid2 swagger 6 63255876-64668282 bp (+) 64395280 Autosomal Recessive  behavior/neurological
nervous system
73 UTSW Jak3 thistle2 8 71676296-71690575 bp (+) 71685545 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
74 UTSW Tirap torpid 9 35184551-35200291 bp (-) 35198707 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
75 UTSW Pax1 wavy 2 147361925-147393295 bp (+) 147365802 Autosomal Recessive  limbs/digits/tail phenotype
76 UTSW Oca2 whitemouse 7 56239760-56536517 bp (+) 56414431 Autosomal Recessive  pigmentation
skin/coat/nails
77 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
[records 1 to 77 of 77]