Phenotypic Mutations

506 mutations affecting 266 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 506] next >> last >| per page Full List
 
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1 UTSW Sgk3 woolly 1 9798107-9900845 bp (+) 9886104 Autosomal Recessive  skin/coat/nails
2 UTSW
has video
Dst tinsel 1 33908225-34308661 bp (+) 34164167 Autosomal Recessive  behavior/neurological
3 UTSW
has video
Dst gobble 1 33908225-34308661 bp (+) 34165155 Autosomal Recessive  behavior/neurological
growth/size
4 UTSW Dst phelps 1 33908225-34308661 bp (+) 34223795 Unknown  growth/size
5 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
6 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
7 UTSW Zap70 mesa_verde 1 36761798-36782818 bp (+) 36779173 Autosomal Recessive  increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in CD44+ CD8 T cells
increase in CD44+ T cells
increase in central memory CD8 T cells in CD8 T cells
T-dependent humoral response defect- decreased antibody response to rSFV
8 APN Zap70 murdock 1 36761798-36782818 bp (+) 36779704 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8 response
decrease in CD8+ T cells
immune system
9 UTSW Zap70 trebia 1 36761798-36782818 bp (+) 36781025 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
hematopoietic competition - disadvantage
immune system
10 APN Zap70 mrtless 1 36761798-36782818 bp (+) 36781149 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8 response
decrease in CD8+ T cells
immune system
11 UTSW Zap70 wanna2 1 36761798-36782818 bp (+) 36781412 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
12 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
13 UTSW Stat1 poison 1 52119440-52161865 bp (+) 52151225 Autosomal Recessive  decrease in NK cell response
immune system
MCMV susceptibility
14 UTSW Casp8 amontillado 1 58795374-58847503 bp (+) 58844770 Autosomal Recessive  decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in naive CD8 T cells in CD8 T 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 CD8+ T cells in CD3+ T cells
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 NK T cells
15 UTSW Crygd L23 1 65061872-65063452 bp (-) 65063084 Autosomal Semidominant  vision/eye
16 UTSW
has photo
Crygb L10 1 65080219-65082288 bp (-) 65082157 Autosomal Semidominant  vision/eye
17 UTSW Epha4 frog 1 77367189-77515088 bp (-) 77481076 Autosomal Recessive  behavior/neurological
immune system
nervous system
18 UTSW
has photo
Pax3 Widget 1 78101267-78197134 bp (-) 78122590 Unknown  pigmentation
skin/coat/nails
19 UTSW Pax3 Nidoqueen 1 78101267-78197134 bp (-) 78132232 Unknown  pigmentation
skin/coat/nails
20 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Autosomal Recessive  digestive/alimentary
hearing/vestibular/ear
renal/urinary system
21 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
22 UTSW Inpp5d Orange 1 87620312-87720507 bp (+) 87697546 Autosomal Semidominant  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
23 UTSW
has photo
Mlph beau 1 90915085-90951142 bp (+) 90928122 Autosomal Recessive  pigmentation
skin/coat/nails
24 UTSW Mlph koala 1 90915085-90951142 bp (+) 90933301 Autosomal Recessive  pigmentation
skin/coat/nails
25 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
26 UTSW
has video
Syt2 kringle 1 134646677-134762593 bp (+) 134747620 Autosomal Recessive  behavior/neurological
growth/size
lethality-postnatal
nervous system
27 UTSW Ptprc guotie 1 138062861-138175708 bp (-) 138068401 Autosomal Recessive  decrease in B cells
decrease in B:T cells
decrease in B1a cells in B1 cells
decrease in CD4+ T cells
decrease in CD44 MFI in CD8
decrease in CD44 MFI in T cells
decrease in CD44+ CD4 T cells
decrease in CD44+ CD8 T cells
decrease in CD44+ T cells
decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
decrease in IgM+ B cells
decrease in naive CD8 T cells in CD8 T cells
decrease in T cells
immune system
increase in B1 cells
increase in CD4:CD8
increase in CD4+ T cells in CD3+ T cells
increase in neutrophils
increase in pDCs in CD11c+ cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
28 APN Ptprc lochy 1 138062861-138175708 bp (-) 138083790 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
hematopoietic system
immune system
29 UTSW Ptprc belittle 1 138062861-138175708 bp (-) 138137493 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
hematopoietic system
immune system
30 UTSW Nek7 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant  NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
31 UTSW Pappa2 Lilliputian 1 158711727-158980490 bp (-) 158716990 Autosomal Semidominant  decrease in body weight
growth/size
32 UTSW Pappa2 Lilliputian2 1 158711727-158980490 bp (-) 158834918 Autosomal Semidominant  Circadian defect: decrease in final body weight
decrease in body weight
decrease in body weight- female
growth/size
33 APN Rc3h1 sanroque 1 160906418-160974978 bp (+) 160940830 Autosomal Recessive  autoimmunity
immune system
34 UTSW
has photo
Rc3h1 curlyfry 1 160906418-160974978 bp (+) 160959399 Autosomal Recessive  decrease in body weight
growth/size
limbs/digits/tail phenotype
35 UTSW Fasl riogrande2 1 161780691-161788495 bp (-) 161787138 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
36 UTSW Sell dim_sum2 1 164061982-164084181 bp (+) 164065661 Autosomal Recessive  decrease in naive CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
37 UTSW Sell dim_sum 1 164061982-164084181 bp (+) 164066201 Autosomal Recessive  decrease in naive CD4 T cells in CD4 T cells
38 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Autosomal Recessive  hematopoietic competition - disadvantage
immune system
39 UTSW
has photo
a garfield 2 154791402-155051012 bp (+) Unknown  pigmentation
skin/coat/nails
40 UTSW
has photo
a killer_whale 2 154791402-155051012 bp (+) Unknown  pigmentation
skin/coat/nails
41 UTSW
has photo
a yellowbelly 2 154791402-155051012 bp (+) Unknown  pigmentation
skin/coat/nails
42 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
43 UTSW Prkcq celina2 2 11172108-11301222 bp (+) 11226986 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
44 UTSW Prkcq celina 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
45 UTSW
has photo
Rxra pinkie 2 27676440-27762957 bp (+) 27752334 Autosomal Recessive  hematopoietic system
immune system
pigmentation
skeleton phenotype
skin/coat/nails
vision/eye
46 UTSW Neurod1 cruz 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
47 UTSW
has photo
Alx4 goofy 2 93642384-93681339 bp (+) 93675369 Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
48 UTSW Rag2 snowcock 2 101624718-101632529 bp (+) 101630603 Autosomal Recessive  decrease in B cells
decrease in B2 cells
decrease in CD4+ T cells
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
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 Rag1 huckle 2 101638282-101649501 bp (-) 101641223 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
immune system
50 UTSW Rag1 maladaptive 2 101638282-101649501 bp (-) 101645647 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
hematopoietic system
immune system
RVFV susceptibility
51 UTSW Eif2ak4 atchoum 2 118388618-118475234 bp (+) 118400653 Autosomal Recessive  adenovirus infection of macrophages- increased
immune system
MCMV proliferation in macrophages- increased
52 UTSW Trp53bp1 lentil2 2 121193281-121271407 bp (-) 121207887 Autosomal Recessive  decrease in IgD MFI in B cells
decrease in IgD+ B cells
decrease in naive CD8 T cells in CD8 T cells
increase in CD44 MFI in CD8
increase in central memory CD8 T cells in CD8 T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
53 UTSW Trp53bp1 lentil 2 121193281-121271407 bp (-) 121251868 Autosomal Recessive  decrease in CD4+ T cells
decrease in IgD MFI in B cells
decrease in T cells
increase in B:T cells
increase in CD44 MFI in T cells
54 UTSW Gatm mrbig 2 122594467-122611303 bp (-) 122600744 Autosomal Recessive  decrease in body weight
DSS: sensitive day 10
DSS: sensitive day 7
55 UTSW Sppl2a abra2 2 126890391-126933235 bp (-) 126920313 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
56 UTSW Sppl2a abra 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
57 UTSW
has photo
Tgm3 tortellini 2 130012349-130050399 bp (+) 130024585 Autosomal Recessive  immune system
RVFV susceptibility
skin/coat/nails
58 UTSW Pax1 wavy 2 147361925-147393295 bp (+) 147365802 Autosomal Recessive  limbs/digits/tail phenotype
59 UTSW Itch scratch 2 155133509-155226855 bp (+) 155172561 Autosomal Recessive  increase in IgE response to a Cysteine Protease (Papain)
increase in total IgE level
60 UTSW Rims4 demure 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive  decrease in body weight
growth/size
61 UTSW Rims4 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive  decrease in body weight
growth/size
62 UTSW Cd40 bluebonnet 2 165055627-165072948 bp (+) 165062301 Autosomal Recessive  increase in OVA-specific IgE
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
63 UTSW Cp iron10 3 19957054-20009145 bp (+) 19989148 Autosomal Recessive  iron deficiency
64 UTSW
has photo
Hps3 gandalf 3 19995945-20035315 bp (-) 20012796 Autosomal Recessive  pigmentation
skin/coat/nails
65 UTSW
has photo
Hps3 pam_gray 3 19995945-20035315 bp (-) 20017173 Autosomal Recessive  DSS: sensitive day 7
pigmentation
skin/coat/nails
66 UTSW
has photo
Hps3 blue 3 19995945-20035315 bp (-) 20030796 Unknown  pigmentation
skin/coat/nails
67 UTSW Tlr2 languid 3 83836272-83841767 bp (-) 83837315 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
68 UTSW Rorc chestnut 3 94372831-94397839 bp (+) 94377609 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
69 UTSW Rorc macadamias2 3 94372831-94397839 bp (+) 94387193 Autosomal Recessive  decrease in B2 cells
decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in naive CD8 T cells in CD8 T cells
increase in B:T cells
increase in B1a cells
increase in B1b cells
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD8+ T cells in CD3+ T cells
increase in effector memory CD4 T cells in CD4 T cells
increase in effector memory CD8 T cells in CD8 T cells
increase in IgD MFI in B cells
increase in macrophages
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
70 UTSW Rorc macadamias 3 94372831-94397839 bp (+) 94397302 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
71 UTSW
has photo
Gja8 L1 3 96918863-96926020 bp (-) 96920197 Autosomal Dominant  vision/eye
72 UTSW Nfkb1 Finlay 3 135584655-135691547 bp (-) 135595053 Autosomal Semidominant  Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
T-dependent humoral response defect- decreased antibody response to rSFV
73 UTSW
has photo
Dock7 moonlight 4 98936675-99120860 bp (-) Autosomal Recessive  behavior/neurological
DSS: sensitive day 7
pigmentation
skin/coat/nails
74 UTSW Lyn Pacific 4 3678115-3813122 bp (+) 3745330 Autosomal Semidominant  decrease in CD4+ T cells
decrease in CD8+ T cells
decrease in NK cells
decrease in T cells
increase in B1 cells
increase in CD11c+ DCs
increase in macrophages
75 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
76 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
77 UTSW
has video
Esrp1 triaka 4 11331933-11386783 bp (-) 11379300 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
nervous system
78 UTSW Aqp3 phoebus 4 41092722-41098183 bp (-) 41095252 Autosomal Recessive  DSS: sensitive
immune system
79 UTSW Pax5 glacier 4 44531145-44710487 bp (-) 44679494 Autosomal Recessive  decrease in B1b cells in B1 cells
increase in B1 cells
80 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
81 UTSW Tlr4 bugsy 4 66827584-66930284 bp (+) 66839254 Autosomal Recessive  Macrophage necroptosis: high
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
82 UTSW Tlr4 Guardiola 4 66827584-66930284 bp (+) 66839303 Autosomal Semidominant  Nlrc4 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
83 UTSW Tlr4 milquetoast 4 66827584-66930284 bp (+) 66839444 Autosomal Recessive  TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
84 UTSW Tlr4 cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive  Macrophage necroptosis: low
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
85 UTSW Tlr4 lps3 4 66827584-66930284 bp (+) 66841097 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
86 UTSW Tlr4 Lps4 4 66827584-66930284 bp (+) 66841142 Autosomal Semidominant  immune system
TLR signaling defect: TNF production by macrophages
87 UTSW Tlr4 don_knotts 4 66827584-66930284 bp (+) 66841172 Autosomal Recessive  decrease in B cells
decrease in B220 MFI in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
TLR signaling defect: hyposensitivity to LPS
88 UTSW
has photo
Tyrp1 chi 4 80834123-80851719 bp (+) 80840778 Autosomal Recessive  pigmentation
skin/coat/nails
89 UTSW Tyrp1 butter 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive  pigmentation
skin/coat/nails
90 UTSW
has photo
Tyrp1 ca-los 4 80834123-80851719 bp (+) 80844868 Autosomal Recessive  pigmentation
skin/coat/nails
91 UTSW
has photo
Frem1 bat 4 82897927-83052339 bp (-) 82983060 Autosomal Recessive  limbs/digits/tail phenotype
renal/urinary system
skin/coat/nails
vision/eye
92 UTSW
has photo
Lepr odd 4 101717404-101815352 bp (+) 101728075 Unknown  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
93 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
94 UTSW
has photo
Lepr Business_class 4 101717404-101815352 bp (+) 101764872 Autosomal Semidominant  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
reproductive system
95 UTSW Lepr giant 4 101717404-101815352 bp (+) 101765152 Autosomal Recessive  30 min GTT hyperglycemic
decreased NK killing
increase in body weight
increase in OVA-specific IgE
increase in total IgE level
96 UTSW
has photo
Lepr Cherub 4 101717404-101815352 bp (+) 101768063 Autosomal Semidominant  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
reproductive system
97 UTSW Lepr Well-upholstered 4 101717404-101815352 bp (+) 101772959 Autosomal Semidominant  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
reproductive system
98 UTSW Lck iconoclast 4 129548349-129573641 bp (-) 129555604 Autosomal Recessive  decrease in CD8 response
decrease in CD8+ T cells
hematopoietic system
immune system
99 UTSW Lck stromberg 4 129548349-129573641 bp (-) 129555640 Autosomal Recessive  decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in CD8+ T cells
decrease in T cells
DSS: resistant day 10
increase in B:T cells
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD8+ T cells in CD3+ T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
100 UTSW Lck lockdown 4 129548349-129573641 bp (-) 129558127 Autosomal Recessive  decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
increase in B:T cells
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in CD8+ T cells
increase in CD8+ T cells in CD3+ T cells
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