Phenotypic Mutations

81 mutations affecting 68 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 82 of 82] per page Full List Export
 
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and none of
1 UTSW
has photo
Lyst 50-cal 13 13590409-13777440 bp (+) 13708212 Autosomal Recessive (9;84) effector memory CD4 T cells in CD4 T cells - increased
LPS-induced Necroptosis - increased
MCMV susceptibility
pigmentation
skin/coat/nails
2 UTSW Edaradd achtung 13 12471209-12520450 bp (-) 12478497 Unknown craniofacial
limbs/digits/tail phenotype
skin/coat/nails
3 UTSW Cd8a alfalfa 6 71373427-71379171 bp (+) 71373728 Autosomal Dominant (1;4)
Autosomal Recessive (7;49)

Autosomal Semidominant (6;64)
CD4:CD8 - increased
CD4+ T cells - increased
CD4+ T cells in CD3+ T cells - increased
CD44 MFI in CD8 - increased
CD8+ T cells - decreased
central memory CD8 T cells in CD8 T cells - increased
effector memory CD8 T cells in CD8 T cells - increased
MCMV susceptibility
naive CD8 T cells in CD8 T cells - decreased
post-MCMV CD4+ T cells in CD3+ T cells - increased
post-MCMV CD8+ T cells - decreased
post-MCMV CD8+ T cells in CD3+ T cells - decreased
4 UTSW Cd36 almond_joy 5 17781690-17888959 bp (-) 17813088 Autosomal Recessive (1;5) fasting hyperglycemia
5 UTSW Prkcb Almonde 7 122288751-122634402 bp (+) 122582449 Autosomal Recessive (1;5)
Autosomal Semidominant (6;41)
B1 cells - decreased
post-MCMV B1a cells in B1 cells - decreased
post-MCMV B1b cells in B1 cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
6 UTSW Ptprc belittle 1 138062861-138175708 bp (-) 138137493 Unknown CD4+ T cells - decreased
CD8+ T cells - decreased
hematopoietic system
immune system
7 UTSW Mc4r Big_boned 18 66857715-66860472 bp (-) 66859488 Autosomal Recessive (1;5)
Autosomal Semidominant (5;26)
Body Weight - increased
growth/size
8 UTSW Ltbr bonsai 6 125306571-125313885 bp (-) 125312770 Autosomal Recessive (2;11) NK killing - decreased
NK T cells - increased
9 UTSW Ticam2 Branch 18 46559155-46574533 bp (-) 46560651 Autosomal Dominant (2;6)
Autosomal Semidominant (2;8)
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
10 UTSW
has photo
Dsg4 burrito 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive (1;5) skin/coat/nails
11 UTSW
has photo
Lepr Business_class 4 101717404-101815352 bp (+) 101764872 Unknown adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
12 UTSW Tyrp1 butter 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive (1;7) pigmentation
skin/coat/nails
13 UTSW Zeb1 cellophane 18 5591860-5775467 bp (+) 5770554 Unknown (3;0) T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
14 UTSW
has photo
Lyst charzard 13 13590409-13777440 bp (+) 13647083 Autosomal Recessive (1;1) pigmentation
skin/coat/nails
15 UTSW
has photo
Lepr Cherub 4 101717404-101815352 bp (+) 101768063 Unknown adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
16 UTSW
has photo
Oca2 cotton 7 56239760-56536517 bp (+) 56535968 Autosomal Recessive (1;3) skin/coat/nails
17 UTSW Tlr9 Cpg3 9 106222598-106226883 bp (+) 106224152 Unknown (3;0) immune system
MCMV susceptibility
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
18 UTSW Cd79a crab 7 24897381-24902197 bp (+) 24899175 Unknown (2;0) B cells - decreased
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
19 UTSW
has video
Grid2 crawler 6 63255876-64668282 bp (+) 64429694 Autosomal Recessive (2;5)
Autosomal Semidominant (1;2)
behavior/neurological
growth/size
nervous system
20 UTSW Lyn Cress 4 3678115-3813122 bp (+) 3789908 Autosomal Dominant (6;31)
Autosomal Recessive (4;18)

Autosomal Semidominant (12;70)
B cells - decreased
B:T cells - decreased
B1a cells - increased
B1a cells in B1 cells - increased
B220 MFI in B cells - decreased
CD4+ T cells - increased
CD8+ T cells - increased
IgD+ B cells - decreased
IgM+ B cells - decreased
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
21 UTSW
has photo
Foxp3 crusty X 7579676-7595243 bp (+) 7592654 Unknown growth/size
hematopoietic system
immune system
lethality-postnatal
limbs/digits/tail phenotype
reproductive system
skin/coat/nails
22 UTSW Tlr4 cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive (3;31)
Autosomal Semidominant (3;16)
Macrophage necroptosis: low
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
23 UTSW Neurod1 cruz 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive (5;21) behavior/neurological
Circadian defect: decrease in circadian active phase duration
Circadian defect: decrease in circadian tau activity onset
Circadian defect: decrease in tau chi squared periodogram
hearing/vestibular/ear
24 UTSW
has video
Hcn2 curveball 10 79716634-79736108 bp (+) 79724786 Autosomal Recessive (7;38) behavior/neurological
Body Weight - decreased
CD4:CD8 - increased
CD4+ T cells in CD3+ T cells - increased
CD8+ T cells in CD3+ T cells - decreased
25 UTSW Tap2 date 17 34203527-34216321 bp (+) 34212354 Autosomal Recessive (6;61) B:T cells - increased
CD4+ T cells in CD3+ T cells - increased
CD44 MFI in CD8 - increased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
26 UTSW Themis death_valley 10 28668360-28883818 bp (+) 28668727 Autosomal Recessive (5;41)
Autosomal Semidominant (5;25)
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 T cells - increased
CD8+ T cells in CD3+ T cells - increased
effector memory CD4 T cells in CD4 T cells - increased
naive CD4 T cells in CD4 T cells - decreased
T cells - decreased
27 UTSW Sell dim_sum 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1;4)
Autosomal Recessive (7;45)
naive CD4 T cells in CD4 T cells - decreased
28 UTSW
has video
Slc26a4 discobolus 12 31519827-31559969 bp (-) 31540533 Autosomal Recessive (2;14) behavior/neurological
hearing/vestibular/ear
29 UTSW Stat1 domino 1 52119440-52161865 bp (+) 52140588 Unknown (3;0) immune system
MCMV proliferation in macrophages - increased
MCMV susceptibility
NK cell response - decreased
response to injected CpG DNA - decreased
RVFV susceptibility
30 UTSW
has photo
Hps5 dorian_gray 7 46760466-46796064 bp (-) 46784145 Unknown pigmentation
skin/coat/nails
31 UTSW
has photo
Npr3 eel 15 11839896-11905674 bp (-) 11858647 Unknown growth/size
limbs/digits/tail phenotype
skeleton phenotype
32 UTSW
has photo
Tmprss6 ekans 15 78439668-78468634 bp (-) 78459427 Autosomal Recessive (2;13)
Autosomal Semidominant (1;4)
skin/coat/nails
33 UTSW Slfn2 elektra 11 83065112-83070678 bp (+) 83069600 Unknown (2;0) CD8+ T cells - decreased
CTL killing - decreased
hematopoietic system
immune system
MCMV susceptibility
NK T cells - decreased
34 UTSW Rab38 fenrir 7 88430273-88491466 bp (+) 88450541 Autosomal Recessive (1;4)
Autosomal Semidominant (1;5)
pigmentation
35 UTSW
has photo
Ksr2 gigante 5 117414000-117775003 bp (+) 117671449 Unknown (1;0)
Autosomal Recessive (4;18)
adipose tissue
growth/size
36 UTSW Pax5 glacier 4 44531145-44710487 bp (-) 44679494 Autosomal Recessive (2;21)
Autosomal Semidominant (1;7)
B1 cells - increased
B1b cells in B1 cells - decreased
37 UTSW
has photo
Mc4r halloween 18 66857715-66860472 bp (-) 66859821 Autosomal Recessive (4;28)
Autosomal Semidominant (4;24)
adipose tissue
Body Weight - increased
growth/size
38 UTSW Traf3 Hulk 12 111166370-111267153 bp (+) 111261576 Autosomal Dominant (1;10)
Autosomal Semidominant (2;10)
B 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
39 UTSW Immp2l imp 12 41024090-41955588 bp (+) 41110847 Autosomal Recessive (6;36) Body Weight - decreased
growth/size
40 UTSW Tap1 joplin 17 34187553-34197225 bp (+) 34193258 Autosomal Recessive (4;24) CD4:CD8 - increased
CD4+ T cells in CD3+ T cells - increased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
41 UTSW Yipf6 Klein-zschocher X 98936316-98949017 bp (+) 98940782 Unknown (1;0) DSS: sensitive day 7
immune system
42 UTSW Nfkb1 kookaburra 3 135584655-135691547 bp (-) 135626611 Autosomal Dominant (1;7)
Autosomal Recessive (4;54)

Autosomal Semidominant (5;29)
B1 cells - decreased
CD44 MFI in CD8 - increased
central memory CD4 T cells in CD4 T cells - decreased
central memory CD8 T cells in CD8 T cells - increased
effector memory CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
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 after 2nd OVA/Alum - decreased
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
43 UTSW
has photo
Crygb L10 1 65080219-65082288 bp (-) 65082157 Unknown vision/eye
44 UTSW Tlr2 languid 3 83836272-83841767 bp (-) 83837315 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
45 UTSW Tlr4 Lops 4 66827584-66930284 bp (+) 66833880 Autosomal Semidominant (3;15) NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
46 UTSW Tlr6 m2sd1 5 64953106-64960048 bp (-) 6540276 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
47 UTSW Rorc macadamias 3 94372831-94397839 bp (+) 94397302 Autosomal Recessive (1;8) T-dependent humoral response defect- decreased antibody response to rSFV
48 UTSW
has video
Myo6 mayday_circler 9 80165031-80311729 bp (+) 80246451 Unknown behavior/neurological
hearing/vestibular/ear
nervous system
49 UTSW
has video
Pcdh15 mcduck 10 73099342-74649737 bp (+) 74626844 Autosomal Recessive (1;4) behavior/neurological
50 UTSW Ticam2 Messi 18 46559155-46574533 bp (-) 46560922 Autosomal Semidominant (4;14) TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
51 UTSW Malt1 mousebird 18 65430963-65478823 bp (+) 65475260 Autosomal Recessive (5;22)
Autosomal Semidominant (1;6)
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
52 UTSW Muc2 Muskatenwein 7 141690340-141754693 bp (+) 141753439 Unknown DSS: sensitive
DSS: sensitive day 7
53 UTSW
has photo
Pkd2 Nephro 5 104459450-104505819 bp (+) 104486806 Unknown (1;0) renal/urinary system
54 UTSW Adgre1 Onion 17 57358686-57483529 bp (+) 57402841 Unknown macrophages - decreased
55 UTSW Lepr paleo 4 101717404-101815352 bp (+) 101745645 Autosomal Recessive (7;107) adipose tissue
Body Weight - increased
Body Weight (Female) - increased
Circadian defect: increase in final body weight
Circadian rhythm
growth/size
56 UTSW Nlrp3 Park5 11 59541568-59566955 bp (+) 59548476 Autosomal Semidominant (4;19) NLRP3 inflammasome: low response
57 UTSW Dst phelps 1 33908225-34308661 bp (+) 34223795 Autosomal Semidominant (1;1) growth/size
58 UTSW
has photo
Rxra pinkie 2 27676440-27762957 bp (+) 27752334 Unknown hematopoietic system
immune system
pigmentation
skeleton phenotype
skin/coat/nails
vision/eye
59 UTSW Chrne pip-squeak 11 70614883-70619216 bp (-) 70615130 Autosomal Recessive (10;76) growth/size
60 UTSW Stat1 poison 1 52119440-52161865 bp (+) 52151225 Unknown (2;0) immune system
MCMV susceptibility
NK cell response - decreased
61 UTSW Lep potbelly 6 29060220-29073877 bp (+) 29068972 Autosomal Recessive (5;35) adipose tissue
Body Weight - increased
growth/size
62 UTSW Plcg2 queen 8 117498291-117635140 bp (+) 117581707 Unknown (1;0) T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
63 UTSW Lyst robin 13 13590409-13777440 bp (+) 13648802 Autosomal Recessive (1;5) pigmentation
skin/coat/nails
64 UTSW
has photo
Krt10 Rough-fur 11 99385254-99389364 bp (-) 99388818 Unknown skin/coat/nails
65 UTSW Tlr7 rsq2 X 167304929-167330558 bp (-) 167307945 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
66 UTSW
has photo
Dtnbp1 salt_and_pepper 13 44922079-45002096 bp (-) 44941438 Unknown (2;0) immune system
MCMV susceptibility
NK cell response - decreased
pigmentation
skin/coat/nails
67 UTSW Hcfc2 Scaffold 10 82696160-82742428 bp (+) 82738408 Unknown (2;0) TLR signaling defect: TNF production by macrophages
68 UTSW Col1a1 seal 11 94936224-94953042 bp (+) 94947184 Unknown behavior/neurological
skeleton phenotype
69 UTSW Zeb1 serpens 18 5591860-5775467 bp (+) 5772455 Autosomal Recessive (2;9) T-dependent humoral response defect- decreased antibody response to rSFV
70 UTSW Rhbdf2 sinecure 11 116598165-116627019 bp (-) 116602260 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
71 UTSW Itga11 sneezy 9 62677826-62783982 bp (+) 62732109 Autosomal Recessive (3;19) Body Weight - decreased
Body Weight (Female) - decreased
72 UTSW Pik3ap1 sothe 19 41274218-41385070 bp (-) 41356683 Unknown T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
73 UTSW Lyst souris 13 13590409-13777440 bp (+) 13683224 Unknown (1;0) hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
pigmentation
skin/coat/nails
74 UTSW Hps6 stamper-coat 19 46003478-46006173 bp (+) 46003836 Unknown DSS: sensitive day 7
pigmentation
skin/coat/nails
75 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
76 UTSW Grid2 swagger 6 63255876-64668282 bp (+) 64395280 Unknown behavior/neurological
nervous system
77 UTSW Jak3 thistle2 8 71676296-71690575 bp (+) 71685545 Autosomal Recessive (1;9) T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
78 UTSW Tirap torpid 9 35184551-35200291 bp (-) 35198707 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
79 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
80 UTSW Pax1 wavy 2 147361925-147393295 bp (+) 147365802 Unknown (1;0)
Autosomal Semidominant (3;12)
limbs/digits/tail phenotype
81 UTSW Oca2 whitemouse 7 56239760-56536517 bp (+) 56414431 Unknown pigmentation
skin/coat/nails
82 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
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