Phenotypic Mutations

529 mutations affecting 266 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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1 APN Atp11c 18nih30a X 60223290-60592698 bp (-) 36608577 X-linked Recessive  anemia
decrease in B cells
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
2 APN Atp11c ambrosius X 60223290-60592698 bp (-) 36608577 X-linked Recessive  anemia
decrease in B cells
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
3 APN Dock8 captain_morgan 19 24999529-25202432 bp (+) 25127711 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
immune system
4 APN Muc2 Eeyore 7 141690340-141754693 bp (+) 141693356 Autosomal Semidominant  DSS: sensitive
immune system
5 APN Muc2 kenny 7 141690340-141754693 bp (+) Autosomal Recessive  DSS: sensitive
immune system
6 APN Tnfaip3 lasvegas 10 19000910-19015657 bp (-) 19010758 Autosomal Recessive  immune system
7 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
8 APN Cd4 maat 6 124864692-124888221 bp (-) 124866684 Autosomal Recessive  decrease in CD4+ T cells
immune system
9 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
10 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
11 APN Dock8 primurus 19 24999529-25202432 bp (+) 25183609 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
immune system
12 APN Tap1 rose 17 34187553-34197225 bp (+) 34194940 Autosomal Recessive  decrease in CD8+ T cells
hematopoietic system
immune system
13 APN Rc3h1 sanroque 1 160906418-160974978 bp (+) 160940830 Autosomal Recessive  autoimmunity
immune system
14 APN Cd4 seshat 6 124864692-124888221 bp (-) 124872977 Autosomal Recessive  decrease in CD4+ T cells
immune system
15 APN Cd4 thoth 6 124864692-124888221 bp (-) 124873140 Autosomal Recessive  decrease in CD4+ T cells
immune system
16 APN Hnrnpll thunder 17 80029487-80062268 bp (-) 80053571 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
immune system
17 APN Prkcb Tilcara 7 122288751-122634402 bp (+) 122595005 Autosomal Semidominant  immune system
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
18 APN Card11 unmodulated 5 140872999-141000596 bp (-) 140897997 Autosomal Recessive  decrease in CD8 response
decrease in NK cell response
decrease in NK cells
decrease in NK T cells
hematopoietic system
immune system
skin/coat/nails
19 APN Muc2 Winnie 7 141690340-141754693 bp (+) 141699460 Autosomal Semidominant  DSS: sensitive
DSS: sensitive day 7
immune system
20 APN Nfkb2 xander 19 46304737-46312090 bp (+) Autosomal Recessive  decrease in B cells
immune system
21 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
22 UTSW
has photo
Rorb 4-limb_clasper 19 18930605-19111196 bp (-) 18983351 Autosomal Recessive  behavior/neurological
nervous system
23 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
24 UTSW Sppl2a abra 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
25 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
26 UTSW Edaradd achtung 13 12471209-12520450 bp (-) 12478497 Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
skin/coat/nails
27 UTSW Edar achtung2 10 58600789-58675654 bp (-) 58603163 Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
skin/coat/nails
28 UTSW
has video
Tomt add 7 101898373-101903785 bp (-) 101902129 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
nervous system
29 UTSW Itgax Adendritic 7 128129547-128150656 bp (+) 128148572 Autosomal Semidominant  decrease in CD11b+ DCs in CD11c+ cells
decrease in CD11c+ DCs
decrease in pDCs in CD11c+ cells
30 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
31 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Autosomal Recessive  hematopoietic competition - disadvantage
immune system
32 UTSW Cd36 almond_joy 5 17781690-17888959 bp (-) 17813088 Autosomal Recessive  fasting hyperglycemia
33 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
34 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
35 UTSW Pik3r1 anubis 13 101680563-101768217 bp (-) 101702776 Autosomal Recessive  decrease in B cells
decrease in B:T cells
decrease in B1a cells in B1 cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in CD4+ T cells
increase in CD8+ T cells
increase in IgE response to a Cysteine Protease (Papain)
increase in OVA-specific IgE
increase in T cells
36 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Autosomal Recessive  digestive/alimentary
hearing/vestibular/ear
renal/urinary system
37 UTSW Tnfsf13b Applecrisp 8 10006843-10035441 bp (+) 10031534 Autosomal Semidominant  decrease in B:T cells
T-dependent humoral response defect- decreased antibody response to rSFV
38 UTSW Dock2 Arches 11 34226815-34783892 bp (-) 34689760 Autosomal Semidominant  decrease in CD4:CD8
decrease in CD4+ T cells in CD3+ T cells
increase in B1 cells
increase in CD8+ T cells in CD3+ T cells
39 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive  adipose tissue
growth/size
increase in body weight
40 UTSW
has photo
Bicc1 artemis 10 70922832-71159700 bp (-) 71027954 Autosomal Recessive  homeostasis/metabolism
life span-post-weaning/aging
renal/urinary system
41 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
42 UTSW Tlr9 Asura 9 106222598-106226883 bp (+) 106224647 Autosomal Semidominant  TLR signaling defect: hyposensitivity to CpG
43 UTSW Eif2ak4 atchoum 2 118388618-118475234 bp (+) 118400653 Autosomal Recessive  adenovirus infection of macrophages- increased
immune system
MCMV proliferation in macrophages- increased
44 UTSW Traf3 bananasplit 12 111166370-111267153 bp (+) 111262036 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
45 UTSW
has photo
Grhl1 bandit 12 24572287-24617391 bp (+) 24578027 Autosomal Recessive  decrease in body weight
growth/size
skin/coat/nails
46 UTSW Gk5 barrener 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive  skin/coat/nails
47 UTSW
has photo
Frem1 bat 4 82897927-83052339 bp (-) 82983060 Autosomal Recessive  limbs/digits/tail phenotype
renal/urinary system
skin/coat/nails
vision/eye
48 UTSW
has photo
Mlph beau 1 90915085-90951142 bp (+) 90928122 Autosomal Recessive  pigmentation
skin/coat/nails
49 UTSW Ptprc belittle 1 138062861-138175708 bp (-) 138137493 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
hematopoietic system
immune system
50 UTSW Rho Bemr3 6 115931927-115938829 bp (+) 115935131 Autosomal Semidominant  vision/eye
51 UTSW Rac2 Big_bend 15 78559169-78572783 bp (-) 78565945 Autosomal Semidominant  decrease in B1 cells
decrease in B1a cells in B1 cells
increase in B1b cells
52 UTSW Mc4r Big_boned 18 66857715-66860472 bp (-) 66859488 Autosomal Semidominant  growth/size
increase in body weight
53 UTSW Rac2 bingo 15 78559169-78572783 bp (-) 78564968 Unknown  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
54 UTSW Blk blaenka 14 63372837-63417187 bp (-) 63384002 Autosomal Recessive  increase in IgE response to a Cysteine Protease (Papain)
increase in total IgE level
55 UTSW
has photo
Hps3 blue 3 19995945-20035315 bp (-) 20030796 Unknown  pigmentation
skin/coat/nails
56 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
57 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
58 UTSW
has photo
Pah bronze 10 87521795-87584136 bp (+) 87570226 Autosomal Recessive  behavior/neurological
homeostasis/metabolism
pigmentation
skin/coat/nails
59 UTSW
has photo
Atp7a brown X 106027276-106124926 bp (+) 106088491 X-linked Recessive  pigmentation
skin/coat/nails
60 UTSW Malt1 bryce_canyon 18 65430963-65478823 bp (+) 65462915 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
61 UTSW Adamts20 buckeye 15 94270163-94465418 bp (-) 94341087 Autosomal Recessive  pigmentation
skin/coat/nails
62 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
63 UTSW
has photo
Ap3b1 bullet_gray 13 94358960-94566316 bp (+) 94451087 Autosomal Recessive  immune system
MCMV susceptibility
pigmentation
skin/coat/nails
64 UTSW Nfkbid bumble 7 30421732-30428746 bp (+) 30425411 Autosomal Recessive  decrease in B cells
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
65 UTSW
has photo
Dsg4 burrito 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive  skin/coat/nails
66 UTSW
has photo
Lepr Business_class 4 101717404-101815352 bp (+) 101764872 Autosomal Semidominant  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
reproductive system
67 UTSW Blnk busy 19 40928927-40994535 bp (-) 40952391 Autosomal Recessive  decrease in B cells
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
68 UTSW Tyrp1 butter 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive  pigmentation
skin/coat/nails
69 UTSW
has photo
Tyrp1 ca-los 4 80834123-80851719 bp (+) 80844868 Autosomal Recessive  pigmentation
skin/coat/nails
70 UTSW Ptpn6 candle 6 124720707-124738714 bp (-) 124728419 Autosomal Recessive  decrease in B cells
decrease in B2 cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in B1 cells
increase in B1a cells
increase in B1a cells in B1 cells
increase in B1b cells
increase in CD11c+ DCs
increase in CD44 MFI in CD8
increase in macrophages
71 UTSW Dock2 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive  increase in OVA-specific IgE
increase in total IgE level
72 UTSW
has photo
Slc45a2 cardigan 15 11000721-11029233 bp (+) 11022172 Autosomal Recessive  pigmentation
skin/coat/nails
73 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
74 UTSW
has photo
Mmp14 cartoon 14 54431604-54441258 bp (+) 54439999 Autosomal Recessive  craniofacial
growth/size
lethality-embryonic/perinatal
life span-post-weaning/aging
reproductive system
vision/eye
75 UTSW Kit Casper 5 75574916-75656722 bp (+) 75645875 Autosomal Dominant  hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
76 UTSW Prkcq celina 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
77 UTSW Prkcq celina2 2 11172108-11301222 bp (+) 11226986 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
78 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
79 UTSW Oca2 charbon 7 56239760-56536517 bp (+) 56316405 Autosomal Recessive  pigmentation
skin/coat/nails
80 UTSW
has photo
Lyst charlotte_gray 13 13590409-13777440 bp (+) 13602026 Autosomal Recessive  pigmentation
skin/coat/nails
81 UTSW
has photo
Lyst charzard 13 13590409-13777440 bp (+) 13647083 Autosomal Recessive  pigmentation
skin/coat/nails
82 UTSW
has photo
Slc45a2 cheng 15 11000721-11029233 bp (+) 11025868 Autosomal Recessive  pigmentation
skin/coat/nails
83 UTSW Fas cherry 19 34290659-34327770 bp (+) 34327140 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
decrease in T cells
increase in neutrophils
increase in NK cells
84 UTSW
has photo
Lepr Cherub 4 101717404-101815352 bp (+) 101768063 Autosomal Semidominant  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
reproductive system
85 UTSW Rorc chestnut 3 94372831-94397839 bp (+) 94377609 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
86 UTSW
has photo
Tyrp1 chi 4 80834123-80851719 bp (+) 80840778 Autosomal Recessive  pigmentation
skin/coat/nails
87 UTSW
has photo
Ap3d1 christian 10 80706978-80742211 bp (-) 80730042 Unknown  pigmentation
skin/coat/nails
88 UTSW Mc4r chubby 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive  adipose tissue
growth/size
89 UTSW Jak3 citron 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive  cellular phenotype
hematopoietic system
immune system
increase in B cells
increase in B:T cells
increase in IgD+ B cells
increase in IgM+ B cells
90 UTSW Themis cloudies 10 28668360-28883818 bp (+) 28761199 Autosomal Recessive  decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD8+ T cells
decrease in naive CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
decrease in T cells
decreased CTL killing
increase in B:T cells
increase in CD4+ T cells in CD3+ T cells
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in CD44+ CD8 T cells
increase in CD8+ T cells in CD3+ 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
91 UTSW Prkdc clover 16 15637866-15842235 bp (+) 15702157 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
92 UTSW
has photo
Rab27a concrete 9 73044854-73098501 bp (+) 73082409 Autosomal Recessive  immune system
MCMV susceptibility
pigmentation
skin/coat/nails
93 UTSW Trp53bp1 concur 2 121193281-121271407 bp (-) 121270319 Autosomal Recessive  decrease in IgD MFI in B cells
94 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
95 UTSW
has photo
Oca2 cotton 7 56239760-56536517 bp (+) 56535968 Autosomal Recessive  skin/coat/nails
96 UTSW
has video
Myo7a coward 7 98051060-98119524 bp (-) 98085466 Autosomal Recessive  behavior/neurological
nervous system
97 UTSW Tlr9 Cpg1 9 106222598-106226883 bp (+) 106225007 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
98 UTSW Tlr9 Cpg11 9 106222598-106226883 bp (+) 106224586 Autosomal Semidominant  TLR signaling defect: TNF production by macrophages
99 UTSW Tlr9 Cpg2 9 106222598-106226883 bp (+) 106226465 Autosomal Semidominant  immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
100 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
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