Phenotypic Mutations

83 mutations affecting 71 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 83 of 83] per page Full List
 
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1 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
2 UTSW
has photo
Rorb 4-limb_clasper 19 18930605-19111196 bp (-) 18983351 Autosomal Recessive  behavior/neurological
nervous system
3 UTSW Sppl2a abra 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive  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  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in CD11c+ DCs
increase in neutrophils
5 UTSW
has photo
Frem1 bat 4 82897927-83052339 bp (-) 82983060 Autosomal Recessive  limbs/digits/tail phenotype
renal/urinary system
skin/coat/nails
vision/eye
6 UTSW Blk blaenka 14 63372837-63417187 bp (-) 63384002 Autosomal Recessive  increase in IgE response to a Cysteine Protease (Papain)
increase in total IgE level
7 UTSW Cd8b1 Carlsbad 6 71322812-71337451 bp (+) 71334101 Autosomal Semidominant  decrease in CD8+ T cells in CD3+ T cells
increase in CD4:CD8
increase in CD4+ T cells in CD3+ T cells
T-dependent humoral response defect- increased antibody response to rSFV
8 UTSW Kit Casper 5 75574916-75656722 bp (+) 75645875 Autosomal Dominant  hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
9 UTSW Prkcq celina 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
10 UTSW Oca2 charbon 7 56239760-56536517 bp (+) 56316405 Autosomal Recessive  pigmentation
skin/coat/nails
11 UTSW
has photo
Tyrp1 chi 4 80834123-80851719 bp (+) 80840778 Autosomal Recessive  pigmentation
skin/coat/nails
12 UTSW Ppp3cb Copacabana 14 20499364-20546573 bp (-) 20530942 Autosomal Semidominant  Circadian defect: decreased wheel revs/24H
decrease in CD4+ T cells
decrease in CD8+ T cells
decrease in T cells
DSS: sensitive day 10
increase in B:T cells
increase in CD44 MFI in CD8
increase in central memory CD8 T cells in CD8 T cells
increase in NK cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
13 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
14 UTSW
has photo
Rc3h1 curlyfry 1 160906418-160974978 bp (+) 160959399 Autosomal Recessive  decrease in body weight
growth/size
limbs/digits/tail phenotype
15 UTSW Themis currant 10 28668360-28883818 bp (+) 28782011 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in T cells
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD8+ T cells in CD3+ T cells
16 UTSW
has photo
Kdelr1 daniel_gray 7 45872772-45883731 bp (+) 45881621 Autosomal Recessive  decrease in B cells
decrease in CD8+ T cells
decrease in NK T cells
increase in CD44+ CD4 T cells
increase in CD44+ CD8 T cells
17 UTSW
has video
Rorb dee-no 19 18930605-19111196 bp (-) 18955053 Autosomal Recessive  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  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in macrophages
increase in neutrophils
increase in NK cells
increase in total IgE level
20 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
21 UTSW Irf1 Endeka 11 53770014-53778374 bp (+) 53772891 Autosomal Semidominant  decrease in CD8+ T cells
decrease in NK cell response
decrease in NK cells
decrease in NK T cells
hematopoietic system
immune system
MCMV susceptibility
TLR signaling defect: type I IFN production by macrophages
22 UTSW Ern2 Ernie2 7 122169893-122186216 bp (-) 122180862 Autosomal Semidominant  DSS: sensitive day 10
23 UTSW Adgre1 F480 17 57358686-57483529 bp (+) 57444063 Autosomal Semidominant  immune system
normal phenotype
24 UTSW Epha4 frog 1 77367189-77515088 bp (-) 77481076 Autosomal Recessive  behavior/neurological
immune system
nervous system
25 UTSW Pax5 glacier2 4 44531145-44710487 bp (-) 44710407 Autosomal Recessive  decrease in B cells
decrease in B:T cells
decrease in B1 cells
decrease in B220 MFI in B cells
decrease in IgD MFI in B cells
decrease in IgD+ B cells
decrease in IgM MFI in B cells
decrease in IgM+ B 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
26 UTSW
has photo
Ghr gnome 15 3317760-3583492 bp (-) 3388646 Autosomal Recessive  decrease in body weight
decrease in body weight- female
decrease in body weight- male
post-MCMV decrease in naive CD4 T cells in CD4 T cells
post-MCMV decrease in naive CD8 T cells in CD8 T cells
post-MCMV increase in macrophages
27 UTSW
has photo
Alx4 goofy 2 93642384-93681339 bp (+) 93675369 Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
28 UTSW Pik3cd grand_tetons 4 149649168-149702571 bp (-) 149652699 Autosomal Recessive  decrease in B1 cells
decrease in B1a cells in B1 cells
decrease in IgG1 response to a Cysteine Protease (Papain)
dsDNA induced type I IFN production: increased
increase in OVA-specific IgE
increase in ratio of OVA-specific IgE over the total IgE
MCMV proliferation in macrophages- increased
post-MCMV decrease in B1a cells
post-MCMV decrease in B1a cells in B1 cells
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 Autosomal Recessive  behavior/neurological
nervous system
30 UTSW Diap1 Guangzhou 18 37843601-37935476 bp (-) 37896093 Autosomal Semidominant  decrease in OVA-specific IgE
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in CD44+ CD4 T cells
increase in CD44+ CD8 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
MCMV susceptibility
post-MCMV decrease in CD8+ T cells in CD3+ T cells
post-MCMV decrease in naive CD4 T cells in CD4 T cells
post-MCMV decrease in naive CD8 T cells in CD8 T cells
post-MCMV increase in CD4:CD8
post-MCMV increase in CD4+ T cells in CD3+ T cells
post-MCMV increase in CD44 MFI in CD4
post-MCMV increase in CD44 MFI in CD8
post-MCMV increase in CD44 MFI in T cells
post-MCMV increase in central memory CD4 T cells in CD4 T cells
post-MCMV increase in central memory CD8 T cells in CD8 T cells
post-MCMV increase in effector memory CD4 T cells in CD4 T cells
31 UTSW Lck iconoclast 4 129548349-129573641 bp (-) 129555604 Autosomal Recessive  decrease in CD8 response
decrease in CD8+ T cells
hematopoietic system
immune system
32 UTSW Ikbkb Impaired 8 22659212-22706589 bp (-) 22666020 Autosomal Semidominant  MCMV susceptibility
post-MCMV decrease in B1a cells in B1 cells
post-MCMV decrease in CD8+ T cells
post-MCMV increase in B1b cells in B1 cells
post-MCMV increase in CD4:CD8
33 UTSW Kbtbd2 infinitesimal 6 56777524-56797813 bp (-) 56779090 Autosomal Recessive  30 min GTT hyperglycemic
growth/size
34 UTSW Tlr6 insouciant 5 64953106-64960048 bp (-) 64954583 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
35 UTSW Itgam invisible 7 128062640-128128160 bp (+) 128070703 Autosomal Recessive  decrease in CD11b+ DCs in CD11c+ cells
decrease in macrophages
decrease in neutrophils
increase in CD8a+ DCs in CD11c+ cells
increase in pDCs in CD11c+ cells
36 UTSW Nlrc4 inwood 17 74426295-74459108 bp (-) 74445630 Autosomal Recessive  Nlrc4 inflammasome: low response
37 UTSW Itk itxaro 11 46325150-46389515 bp (-) 46338217 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in CD44+ CD4 T cells
decrease in CD44+ CD8 T cells
decrease in CD44+ T cells
decrease in central memory CD8 T cells in CD8 T cells
decrease in effector memory CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
increase in IgE response to a Cysteine Protease (Papain)
increase in total IgE level
38 UTSW Dclre1c kiwis 2 3424131-3464130 bp (+) 3436475 Autosomal Recessive  decrease in B cells
decrease in B1a cells
decrease in B2 cells
decrease in B220 MFI in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
decrease in IgD MFI in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
decrease in NK T cells
decrease in T cells
increase in B1b 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 macrophages
increase in neutrophils
increase in NK 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
39 UTSW Mlph koala 1 90915085-90951142 bp (+) 90933301 Autosomal Recessive  pigmentation
skin/coat/nails
40 UTSW Per2 Kortiku 1 91415982-91459324 bp (-) 91423829 Autosomal Semidominant  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
41 UTSW
has photo
Gja8 L1 3 96918863-96926020 bp (-) 96920197 Autosomal Dominant  vision/eye
42 UTSW Rac2 Lamb 15 78559169-78572783 bp (-) 78564934 Autosomal Semidominant  decrease in B1a cells in B1 cells
increase in B1b cells in B1 cells
increase in CD8+ T cells
43 UTSW Lyn Lemon 4 3678115-3813122 bp (+) 3746768 Autosomal Semidominant  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in neutrophils
44 UTSW Atp2b2 lohan 6 113745669-114042613 bp (-) 113760650 Autosomal Recessive  behavior/neurological
nervous system
45 UTSW Adgre1 lomax 17 57358686-57483529 bp (+) 57402811 Autosomal Recessive  decrease in macrophages
46 UTSW Tlr6 m2sd3 5 64953106-64960048 bp (-) 64954241 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
47 UTSW Ifnar2 macro-2 16 91372783-91405589 bp (+) 91383899 Autosomal Recessive  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
48 UTSW Jak3 mount_tai 8 71676296-71690575 bp (+) 71683377 Autosomal Recessive  decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
decrease in naive CD8 T cells in CD8 T cells
decrease in T cells
increase in CD4:CD8
increase in CD4+ T cells in CD3+ T cells
increase in CD44 MFI in CD4
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 total IgE level
MCMV susceptibility
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
49 UTSW
has photo
Gsdma3 Mr_magoo 11 98626360-98638226 bp (+) 98635919 Autosomal Dominant  skin/coat/nails
50 UTSW Nr3c2 naughty 8 76899442-77245012 bp (+) 76908668 Autosomal Recessive  decrease in body weight
growth/size
51 UTSW Nlrp3 Nd6 11 59541568-59566955 bp (+) 59549354 Autosomal Semidominant  immune system
NALP3 inflammasome signaling defect
52 UTSW Pax3 Nidoqueen 1 78101267-78197134 bp (-) 78132232 Unknown  pigmentation
skin/coat/nails
53 UTSW
has video
Scn8a nymph 15 100870683-101045929 bp (+) 101035646 Autosomal Recessive  behavior/neurological
growth/size
54 UTSW Nlrp3 Park3 11 59541568-59566955 bp (+) 59565850 Autosomal Dominant  NLRP3 inflammasome: low response
55 UTSW Nlrp3 Park4 11 59541568-59566955 bp (+) 59549531 Autosomal Dominant  NLRP3 inflammasome: low response
56 UTSW Cntnap1 Penny 11 101170523-101190724 bp (+) 101186764 Autosomal Semidominant  decrease in body weight
57 UTSW Aqp3 phoebus 4 41092722-41098183 bp (-) 41095252 Autosomal Recessive  DSS: sensitive
immune system
58 UTSW Syk poppy 13 52583173-52648792 bp (+) 52640733 Autosomal Recessive  decrease in B cells
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
59 UTSW Slc13a5 Punk 11 72241994-72267222 bp (-) 72262076 Autosomal Semidominant  decrease in body weight
growth/size
60 UTSW Cd22 rain 7 30865402-30880342 bp (-) 30877534 Autosomal Recessive  decrease in B cells
decrease in B:T cells
decrease in IgD MFI in B cells
decrease in IgD+ B cells
decrease in IgM MFI in B cells
decrease in IgM+ B cells
increase in CD4+ T cells
increase in CD8+ T cells
increase in T cells
61 UTSW Tlr3 Rakshasa 8 45395665-45410608 bp (-) 45397697 Autosomal Semidominant  TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
62 UTSW Adgre1 Scallion 17 57358686-57483529 bp (+) 57401977 Unknown  decrease in macrophages
63 UTSW Prkdc screamer4 16 15637866-15842235 bp (+) 15783079 Unknown  post-MCMV increase in CD44+ CD4 T cells
post-MCMV increase in CD44+ T cells
64 UTSW Prkdc Screamer7 16 15637866-15842235 bp (+) 15654817 Autosomal Semidominant  increase in CD44+ CD4 T cells
post-MCMV decrease in CD8+ T cells
post-MCMV increase in pDCs in CD11c+ cells
65 UTSW Mlkl secro 8 111311797-111338177 bp (-) 111315567 Autosomal Recessive  Macrophage necroptosis: low
66 APN Cd4 seshat 6 124864692-124888221 bp (-) 124872977 Autosomal Recessive  decrease in CD4+ T cells
immune system
67 UTSW Krt25 Sinuous 11 99315516-99322951 bp (-) 99322630 Autosomal Dominant  skin/coat/nails
68 UTSW Syk Sisyphus 13 52583173-52648792 bp (+) 52640790 Autosomal Dominant  increase in NK cells
NLRP3 inflammasome: high response
69 UTSW Pik3ap1 sooni 19 41274218-41385070 bp (-) 41327909 Autosomal Recessive  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
70 UTSW Kcnj8 sos 6 142564939-142571356 bp (-) 142565927 Autosomal Recessive  cardiovascular system
homeostasis/metabolism
immune system
lethality-postnatal
TLR signaling defect: hypersensitivity to LPS
71 UTSW
has photo
Mc4r Southbeach 18 66857715-66860472 bp (-) 66859142 Autosomal Semidominant  adipose tissue
growth/size
72 UTSW
has photo
Ptpn6 spin2 6 124720707-124738714 bp (-) 124732369 Autosomal Recessive  hematopoietic system
immune system
73 UTSW Cngb1 stevie 8 95239045-95306585 bp (-) 95260130 Autosomal Recessive  eye: decrease in BM to ELM thickness
eye: decrease in BM to ILM thickness
eye: decrease in ONL thickness
vision/eye
74 UTSW Ighd surface2 12 113406604-113416324 bp (-) 113416041 Autosomal Recessive  decrease in IgD MFI in B cells
75 UTSW
has video
Dst tinsel 1 33908225-34308661 bp (+) 34164167 Autosomal Recessive  behavior/neurological
76 UTSW
has photo
Hps5 titan 7 46760466-46796064 bp (-) 46783469 Autosomal Recessive  pigmentation
skin/coat/nails
77 UTSW Tlr13 Tlr13rev1 X 106143204-106160493 bp (+) 106157377 Unknown  normal phenotype
78 UTSW
has photo
Hps5 toffee 7 46760466-46796064 bp (-) 46777075 Autosomal Recessive  DSS: sensitive day 7
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
vision/eye
79 UTSW
has video
Efnb3 turtle 11 69554092-69560205 bp (-) 69557283 Autosomal Recessive  behavior/neurological
nervous system
80 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
81 UTSW Zap70 wanna 1 36761798-36782818 bp (+) 36770983 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
T-dependent humoral response defect- decreased antibody response to rSFV
82 UTSW Zap70 waterfowl 1 36761798-36782818 bp (+) 36770811 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in CD8+ T cells
decrease in T cells
increase in B:T cells
83 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
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