Phenotypic Mutations

84 mutations affecting 72 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 85 of 85] per page Full List Export
 
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1 UTSW Unc93b1 3d 19 3935186-3949340 bp (+) 3944168 Unknown (2;0) DSS: sensitive day 7
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
2 UTSW
has photo
Rorb 4-limb_clasper 19 18930605-19111196 bp (-) 18983351 Unknown behavior/neurological
nervous system
3 UTSW Sppl2a abra 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive (1;5) T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
4 UTSW Fcer2a arum 8 3681737-3694174 bp (-) 3688796 Autosomal Recessive (5;32) B cells - decreased
CD11c+ DCs - increased
IgD+ B cells - decreased
IgM+ B cells - decreased
neutrophils - increased
5 UTSW
has photo
Frem1 bat 4 82897927-83052339 bp (-) 82983060 Unknown limbs/digits/tail phenotype
renal/urinary system
skin/coat/nails
vision/eye
6 UTSW Blk blaenka 14 63372837-63417187 bp (-) 63384002 Autosomal Recessive (4;20) IgE response to a Cysteine Protease (Papain) - increased
Nlrc4 inflammasome: high response
NLRP3 inflammasome: high response
total IgE level - increased
7 UTSW Cd8b1 Carlsbad 6 71322812-71337451 bp (+) 71334101 Autosomal Recessive (1;4)
Autosomal Semidominant (3;15)
CD4:CD8 - increased
CD4+ T cells in CD3+ T cells - increased
CD8+ T cells in CD3+ T cells - decreased
T-dependent humoral response defect- increased antibody response to rSFV
8 UTSW Kit Casper 5 75574916-75656722 bp (+) 75645875 Unknown hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
9 UTSW Prkcq celina 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive (1;6) T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
10 UTSW Oca2 charbon 7 56239760-56536517 bp (+) 56316405 Unknown pigmentation
skin/coat/nails
11 UTSW
has photo
Tyrp1 chi 4 80834123-80851719 bp (+) 80840778 Unknown (1;0) pigmentation
skin/coat/nails
12 UTSW Ppp3cb Copacabana 14 20499364-20546573 bp (-) 20530942 Autosomal Dominant (1;4)
Autosomal Recessive (4;21)

Autosomal Semidominant (8;48)
B:T cells - increased
CD4+ T cells - decreased
CD44 MFI in CD8 - increased
CD8+ T cells - decreased
central memory CD8 T cells in CD8 T cells - increased
Circadian defect: decreased wheel revs/24H
DSS: sensitive day 10
NK cells - increased
T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
13 UTSW Cd22 crullers 7 30865402-30880342 bp (-) 30869883 Autosomal Dominant (1;4)
Autosomal Recessive (10;53)

Autosomal Semidominant (3;18)
B cells - decreased
B1a cells - increased
B1b cells - increased
B2 cells - decreased
IgD MFI in B cells - decreased
post-MCMV B cells - decreased
post-MCMV IgD+ B cells - decreased
post-MCMV IgM+ B cells - decreased
14 UTSW
has photo
Rc3h1 curlyfry 1 160906418-160974978 bp (+) 160959399 Unknown (1;0)
Autosomal Recessive (3;16)

Autosomal Semidominant (4;17)
Body Weight - decreased
growth/size
limbs/digits/tail phenotype
15 UTSW Themis currant 10 28668360-28883818 bp (+) 28782011 Autosomal Recessive (12;75) 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 in CD3+ T cells - increased
T cells - decreased
16 UTSW
has photo
Kdelr1 daniel_gray 7 45872772-45883731 bp (+) 45881621 Unknown B cells - decreased
CD44+ CD4 T cells - increased
CD44+ CD8 T cells - increased
CD8+ T cells - decreased
NK T cells - decreased
17 UTSW
has video
Rorb dee-no 19 18930605-19111196 bp (-) 18955053 Autosomal Recessive (8;34) behavior/neurological
limbs/digits/tail phenotype
nervous system
18 UTSW
has photo
Mc1r deer 8 123407107-123410744 bp (+) 123407958 Unknown pigmentation
skin/coat/nails
19 UTSW Dock2 denali 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive (2;25)
Autosomal Semidominant (5;25)
B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
macrophages - increased
neutrophils - increased
NK cells - increased
total IgE level - increased
20 UTSW Tnf Dome 17 35199381-35202007 bp (-) 35201674 Unknown (4;0) TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
21 UTSW Irf1 Endeka 11 53770014-53778374 bp (+) 53772891 Unknown (2;0) CD8+ T cells - decreased
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
NK cells - decreased
NK T cells - decreased
TLR signaling defect: type I IFN production by macrophages
22 UTSW Ern2 Ernie2 7 122169893-122186216 bp (-) 122180862 Autosomal Dominant (1;1)
Autosomal Semidominant (1;4)
DSS: sensitive day 10
23 UTSW Adgre1 F480 17 57358686-57483529 bp (+) 57444063 Unknown immune system
normal phenotype
24 UTSW Epha4 frog 1 77367189-77515088 bp (-) 77481076 Unknown behavior/neurological
immune system
nervous system
25 UTSW Pax5 glacier2 4 44531145-44710487 bp (-) 44710407 Autosomal Recessive (13;215)
Autosomal Semidominant (2;32)
B cells - decreased
B:T cells - decreased
B1 cells - decreased
B220 MFI in B cells - decreased
CD4+ T cells - increased
CD8+ T cells - increased
IgD MFI in B cells - decreased
IgD+ B cells - decreased
IgM MFI in 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
26 UTSW
has photo
Ghr gnome 15 3317760-3583492 bp (-) 3388646 Autosomal Recessive (10;53) Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
post-MCMV macrophages - increased
post-MCMV naive CD4 T cells in CD4 T cells - decreased
post-MCMV naive CD8 T cells in CD8 T cells - decreased
27 UTSW
has photo
Alx4 goofy 2 93642384-93681339 bp (+) 93675369 Unknown craniofacial
limbs/digits/tail phenotype
28 UTSW Pik3cd grand_tetons 4 149649168-149702571 bp (-) 149652699 Autosomal Dominant (1;4)
Autosomal Recessive (8;47)

Autosomal Semidominant (2;9)
B1 cells - decreased
B1a cells in B1 cells - decreased
dsDNA induced type I IFN production - increased
IgG1 response to a Cysteine Protease (Papain) - decreased
MCMV proliferation in macrophages - increased
OVA-specific IgE - increased
post-MCMV B1a cells - decreased
post-MCMV B1a cells in B1 cells - decreased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
29 UTSW
has video
Rorb grasshopper 19 18930605-19111196 bp (-) 19110557 Unknown behavior/neurological
nervous system
30 UTSW Diaph1 Guangzhou 18 37843601-37935476 bp (-) 37896093 Unknown (13;0)
Autosomal Dominant (1;5)

Autosomal Semidominant (8;34)
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD44+ CD4 T cells - increased
CD44+ CD8 T cells - increased
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
MCMV susceptibility
OVA-specific IgE - decreased
post-MCMV CD4:CD8 - increased
post-MCMV CD4+ T cells in CD3+ T cells - increased
post-MCMV CD44 MFI in CD4 - increased
post-MCMV CD44 MFI in CD8 - increased
post-MCMV CD44 MFI in T cells - increased
post-MCMV CD8+ T cells in CD3+ T cells - decreased
post-MCMV central memory CD4 T cells in CD4 T cells - increased
post-MCMV central memory CD8 T cells in CD8 T cells - increased
post-MCMV effector memory CD4 T cells in CD4 T cells - increased
post-MCMV naive CD4 T cells in CD4 T cells - decreased
post-MCMV naive CD8 T cells in CD8 T cells - decreased
31 UTSW Ptprc guotie2 1 138062861-138175708 bp (-) 138094299 Autosomal Recessive (18;94)
Autosomal Semidominant (2;10)
B cells - decreased
B1a cells in B1 cells - decreased
B1b cells - increased
B2 cells - decreased
B220 MFI in B cells - decreased
CD44 MFI in CD8 - increased
CD8+ T cells - decreased
IgD MFI in B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
naive CD4 T cells in CD4 T cells - decreased
T cells - decreased
32 UTSW Lck iconoclast 4 129548349-129573641 bp (-) 129555604 Unknown (1;0) CD8+ T cells - decreased
CTL killing - decreased
hematopoietic system
immune system
33 UTSW Ikbkb Impaired 8 22659212-22706589 bp (-) 22666020 Autosomal Recessive (2;8)
Autosomal Semidominant (7;30)
MCMV susceptibility
post-MCMV B1a cells in B1 cells - decreased
post-MCMV B1b cells in B1 cells - increased
post-MCMV CD4:CD8 - increased
post-MCMV CD8+ T cells - decreased
34 UTSW Kbtbd2 infinitesimal 6 56777524-56797813 bp (-) 56779090 Autosomal Recessive (3;17) 30 min GTT hyperglycemic
growth/size
35 UTSW Tlr6 insouciant 5 64953106-64960048 bp (-) 64954583 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
36 UTSW Itgam invisible 7 128062640-128128160 bp (+) 128070703 Autosomal Recessive (4;75)
Autosomal Semidominant (1;7)
CD11b+ DCs in CD11c+ cells - decreased
CD8a+ DCs in CD11c+ cells - increased
macrophages - decreased
neutrophils - decreased
pDCs in CD11c+ cells - increased
37 UTSW Nlrc4 inwood 17 74426295-74459108 bp (-) 74445630 Autosomal Semidominant (1;3) Nlrc4 inflammasome: low response
38 UTSW Itk itxaro 11 46325150-46389515 bp (-) 46338217 Autosomal Recessive (10;58) CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44+ CD4 T cells - decreased
CD44+ CD8 T cells - decreased
CD44+ T cells - decreased
central memory CD8 T cells in CD8 T cells - decreased
effector memory CD4 T cells in CD4 T cells - decreased
IgE response to a Cysteine Protease (Papain) - increased
naive CD8 T cells in CD8 T cells - decreased
total IgE level - increased
39 UTSW Dclre1c kiwis 2 3424131-3464130 bp (+) 3436475 Autosomal Recessive (23;217) B cells - decreased
B1a cells - decreased
B1b cells - increased
B2 cells - decreased
B220 MFI in B cells - decreased
CD11c+ DCs - increased
CD4+ T cells - decreased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD8+ T cells - decreased
IgD MFI in B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
macrophages - increased
neutrophils - increased
NK cells - increased
NK 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
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
40 UTSW Mlph koala 1 90915085-90951142 bp (+) 90933301 Unknown pigmentation
skin/coat/nails
41 UTSW Per2 Kortiku 1 91415982-91459324 bp (-) 91423829 Autosomal Recessive (2;24)
Autosomal Semidominant (2;33)
Circadian defect: decrease in circadian active phase duration
Circadian defect: decrease in circadian phase angle intercept
Circadian defect: decrease in circadian tau DD by eye
Circadian defect: decrease in tau chi squared periodogram
Circadian rhythm
42 UTSW
has photo
Gja8 L1 3 96918863-96926020 bp (-) 96920197 Unknown vision/eye
43 UTSW Rac2 Lamb 15 78559169-78572783 bp (-) 78564934 Autosomal Dominant (1;4)
Autosomal Recessive (2;9)
B1a cells in B1 cells - decreased
B1b cells in B1 cells - increased
CD8+ T cells - increased
44 UTSW Lyn Lemon 4 3678115-3813122 bp (+) 3746768 Autosomal Recessive (1;5)
Autosomal Semidominant (3;14)
B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
neutrophils - increased
45 UTSW Atp2b2 lohan 6 113745669-114042613 bp (-) 113760650 Autosomal Recessive (4;14) behavior/neurological
nervous system
46 UTSW Adgre1 lomax 17 57358686-57483529 bp (+) 57402811 Autosomal Recessive (1;7) macrophages - decreased
47 UTSW Tlr6 m2sd3 5 64953106-64960048 bp (-) 64954241 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
48 UTSW Ifnar2 macro-2 16 91372783-91405589 bp (+) 91383899 Unknown (3;0) adenovirus infection of macrophages - increased
immune system
impaired response to dsDNA- type I IFN production by macrophages
influenza proliferation in macrophages - increased
MCMV proliferation in macrophages - increased
RVFV proliferation in macrophages - increased
RVFV susceptibility
49 UTSW Jak3 mount_tai 8 71676296-71690575 bp (+) 71683377 Autosomal Recessive (24;193)
Autosomal Semidominant (3;15)
CD4:CD8 - increased
CD4+ T cells in CD3+ T cells - increased
CD44 MFI in CD4 - increased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
effector memory CD4 T cells in CD4 T cells - increased
effector memory CD8 T cells in CD8 T cells - increased
MCMV susceptibility
naive CD8 T cells in CD8 T cells - decreased
neutrophils - increased
NK cells - increased
T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
total IgE level - increased
50 UTSW
has photo
Gsdma3 Mr_magoo 11 98626360-98638226 bp (+) 98635919 Unknown (1;0) skin/coat/nails
51 UTSW Nr3c2 naughty 8 76899442-77245012 bp (+) 76908668 Autosomal Recessive (1;5) Body Weight - decreased
growth/size
52 UTSW Nlrp3 Nd6 11 59541568-59566955 bp (+) 59549354 Unknown (1;0) immune system
NALP3 inflammasome signaling defect
53 UTSW Pax3 Nidoqueen 1 78101267-78197134 bp (-) 78132232 Unknown (1;0) pigmentation
skin/coat/nails
54 UTSW
has video
Scn8a nymph 15 100870683-101045929 bp (+) 101035646 Autosomal Recessive (1;5) behavior/neurological
growth/size
55 UTSW Nlrp3 Park3 11 59541568-59566955 bp (+) 59565850 Autosomal Semidominant (1;3) NLRP3 inflammasome: low response
56 UTSW Nlrp3 Park4 11 59541568-59566955 bp (+) 59549531 Autosomal Dominant (1;9)
Autosomal Semidominant (1;6)
NLRP3 inflammasome: low response
57 UTSW Cntnap1 Penny 11 101170523-101190724 bp (+) 101186764 Autosomal Semidominant (3;13) Body Weight - decreased
58 UTSW Aqp3 phoebus 4 41092722-41098183 bp (-) 41095252 Unknown (1;0) DSS: sensitive
immune system
59 UTSW Syk poppy 13 52583173-52648792 bp (+) 52640733 Unknown (2;0)
Autosomal Dominant (2;2)

Autosomal Recessive (3;8)


Autosomal Semidominant (1;3)
B cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to MALP2
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
60 UTSW Slc13a5 Punk 11 72241994-72267222 bp (-) 72262076 Autosomal Recessive (2;8)
Autosomal Semidominant (2;10)
Body Weight - decreased
growth/size
61 UTSW Cd22 rain 7 30865402-30880342 bp (-) 30877534 Autosomal Recessive (9;92) B cells - decreased
B:T cells - decreased
CD4+ T cells - increased
CD8+ T cells - increased
IgD MFI in B cells - decreased
IgD+ B cells - decreased
IgM MFI in B cells - decreased
IgM+ B cells - decreased
T cells - increased
62 UTSW Tlr3 Rakshasa 8 45395665-45410608 bp (-) 45397697 Autosomal Dominant (1;4) TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
63 UTSW Inpp5d Sailing 1 87620312-87720507 bp (+) 87705964 Unknown (2;0) IgM MFI in B cells - decreased
NK cells - decreased
64 UTSW Adgre1 Scallion 17 57358686-57483529 bp (+) 57401977 Autosomal Semidominant (1;10) macrophages - decreased
65 UTSW Prkdc screamer4 16 15637866-15842235 bp (+) 15783079 Autosomal Recessive (1;4)
Autosomal Semidominant (1;4)
post-MCMV CD44+ CD4 T cells - increased
post-MCMV CD44+ T cells - increased
66 UTSW Prkdc Screamer7 16 15637866-15842235 bp (+) 15654817 Autosomal Recessive (2;8)
Autosomal Semidominant (1;6)
CD44+ CD4 T cells - increased
post-MCMV CD8+ T cells - decreased
post-MCMV pDCs in CD11c+ cells - increased
67 UTSW Mlkl secro 8 111311797-111338177 bp (-) 111315567 Autosomal Recessive (1;22) Macrophage necroptosis: low
68 APN Cd4 seshat 6 124864692-124888221 bp (-) 124872977 Unknown CD4+ T cells - decreased
immune system
69 UTSW Krt25 Sinuous 11 99315516-99322951 bp (-) 99322630 Unknown skin/coat/nails
70 UTSW Syk Sisyphus 13 52583173-52648792 bp (+) 52640790 Unknown (4;0) NK cells - increased
NLRP3 inflammasome: high response
71 UTSW Pik3ap1 sooni 19 41274218-41385070 bp (-) 41327909 Autosomal Recessive (3;16) B1a cells in B1 cells - decreased
B1b cells in B1 cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
72 UTSW Kcnj8 sos 6 142564939-142571356 bp (-) 142565927 Unknown (1;0) cardiovascular system
homeostasis/metabolism
immune system
lethality-postnatal
TLR signaling defect: hypersensitivity to LPS
73 UTSW
has photo
Mc4r Southbeach 18 66857715-66860472 bp (-) 66859142 Unknown adipose tissue
growth/size
74 UTSW
has photo
Ptpn6 spin2 6 124720707-124738714 bp (-) 124732369 Unknown hematopoietic system
immune system
75 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
76 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
77 UTSW
has video
Dst tinsel 1 33908225-34308661 bp (+) 34164167 Unknown (2;0)
Autosomal Recessive (3;23)
behavior/neurological
78 UTSW
has photo
Hps5 titan 7 46760466-46796064 bp (-) 46783469 Autosomal Dominant (2;19)
Autosomal Recessive (2;6)
pigmentation
skin/coat/nails
79 UTSW Tlr13 Tlr13rev1 X 106143204-106160493 bp (+) 106157377 Unknown normal phenotype
80 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
81 UTSW
has video
Efnb3 turtle 11 69554092-69560205 bp (-) 69557283 Unknown (1;0) behavior/neurological
nervous system
82 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
83 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
84 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
85 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
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