Phenotypic Mutations

511 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 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
3 UTSW
has photo
Rorb 4-limb_clasper 19 18930605-19111196 bp (-) 18983351 Autosomal Recessive  behavior/neurological
nervous system
4 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
5 UTSW Sppl2a abra 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
6 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
7 UTSW Edaradd achtung 13 12471209-12520450 bp (-) 12478497 Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
skin/coat/nails
8 UTSW Edar achtung2 10 58600789-58675654 bp (-) 58603163 Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
skin/coat/nails
9 UTSW
has video
Tomt add 7 101898373-101903785 bp (-) 101902129 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
nervous system
10 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
11 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
12 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Autosomal Recessive  hematopoietic competition - disadvantage
immune system
13 UTSW Cd36 almond_joy 5 17781690-17888959 bp (-) 17813088 Autosomal Recessive  fasting hyperglycemia
14 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
15 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
16 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
17 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
18 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Autosomal Recessive  digestive/alimentary
hearing/vestibular/ear
renal/urinary system
19 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
20 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
21 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive  adipose tissue
growth/size
increase in body weight
22 UTSW
has photo
Bicc1 artemis 10 70922832-71159700 bp (-) 71027954 Autosomal Recessive  homeostasis/metabolism
life span-post-weaning/aging
renal/urinary system
23 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
24 UTSW Tlr9 Asura 9 106222598-106226883 bp (+) 106224647 Autosomal Semidominant  TLR signaling defect: hyposensitivity to CpG
25 UTSW Eif2ak4 atchoum 2 118388618-118475234 bp (+) 118400653 Autosomal Recessive  adenovirus infection of macrophages- increased
immune system
MCMV proliferation in macrophages- increased
26 UTSW Traf3 bananasplit 12 111166370-111267153 bp (+) 111262036 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
27 UTSW
has photo
Grhl1 bandit 12 24572287-24617391 bp (+) 24578027 Autosomal Recessive  decrease in body weight
growth/size
skin/coat/nails
28 UTSW Gk5 barrener 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive  skin/coat/nails
29 UTSW
has photo
Frem1 bat 4 82897927-83052339 bp (-) 82983060 Autosomal Recessive  limbs/digits/tail phenotype
renal/urinary system
skin/coat/nails
vision/eye
30 UTSW
has photo
Mlph beau 1 90915085-90951142 bp (+) 90928122 Autosomal Recessive  pigmentation
skin/coat/nails
31 UTSW Ptprc belittle 1 138062861-138175708 bp (-) 138137493 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
hematopoietic system
immune system
32 UTSW Rho Bemr3 6 115931927-115938829 bp (+) 115935131 Autosomal Semidominant  vision/eye
33 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
34 UTSW Mc4r Big_boned 18 66857715-66860472 bp (-) 66859488 Autosomal Semidominant  growth/size
increase in body weight
35 UTSW Rac2 bingo 15 78559169-78572783 bp (-) 78564968 Unknown  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
36 UTSW Blk blaenka 14 63372837-63417187 bp (-) 63384002 Autosomal Recessive  increase in IgE response to a Cysteine Protease (Papain)
increase in total IgE level
37 UTSW
has photo
Hps3 blue 3 19995945-20035315 bp (-) 20030796 Unknown  pigmentation
skin/coat/nails
38 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
39 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
40 UTSW
has photo
Pah bronze 10 87521795-87584136 bp (+) 87570226 Autosomal Recessive  behavior/neurological
homeostasis/metabolism
pigmentation
skin/coat/nails
41 UTSW
has photo
Atp7a brown X 106027276-106124926 bp (+) 106088491 X-linked Recessive  pigmentation
skin/coat/nails
42 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
43 UTSW Adamts20 buckeye 15 94270163-94465418 bp (-) 94341087 Autosomal Recessive  pigmentation
skin/coat/nails
44 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
45 UTSW
has photo
Ap3b1 bullet_gray 13 94358960-94566316 bp (+) 94451087 Autosomal Recessive  immune system
MCMV susceptibility
pigmentation
skin/coat/nails
46 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
47 UTSW
has photo
Dsg4 burrito 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive  skin/coat/nails
48 UTSW
has photo
Lepr Business_class 4 101717404-101815352 bp (+) 101764872 Autosomal Semidominant  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
reproductive system
49 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
50 UTSW Tyrp1 butter 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive  pigmentation
skin/coat/nails
51 UTSW
has photo
Tyrp1 ca-los 4 80834123-80851719 bp (+) 80844868 Autosomal Recessive  pigmentation
skin/coat/nails
52 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
53 UTSW Dock2 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive  increase in OVA-specific IgE
increase in total IgE level
54 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
55 UTSW
has photo
Slc45a2 cardigan 15 11000721-11029233 bp (+) 11022172 Autosomal Recessive  pigmentation
skin/coat/nails
56 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
57 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
58 UTSW Kit Casper 5 75574916-75656722 bp (+) 75645875 Autosomal Dominant  hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
59 UTSW Prkcq celina 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
60 UTSW Prkcq celina2 2 11172108-11301222 bp (+) 11226986 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
61 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
62 UTSW Oca2 charbon 7 56239760-56536517 bp (+) 56316405 Autosomal Recessive  pigmentation
skin/coat/nails
63 UTSW
has photo
Lyst charlotte_gray 13 13590409-13777440 bp (+) 13602026 Autosomal Recessive  pigmentation
skin/coat/nails
64 UTSW
has photo
Lyst charzard 13 13590409-13777440 bp (+) 13647083 Autosomal Recessive  pigmentation
skin/coat/nails
65 UTSW
has photo
Slc45a2 cheng 15 11000721-11029233 bp (+) 11025868 Autosomal Recessive  pigmentation
skin/coat/nails
66 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
67 UTSW
has photo
Lepr Cherub 4 101717404-101815352 bp (+) 101768063 Autosomal Semidominant  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
reproductive system
68 UTSW Rorc chestnut 3 94372831-94397839 bp (+) 94377609 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
69 UTSW
has photo
Tyrp1 chi 4 80834123-80851719 bp (+) 80840778 Autosomal Recessive  pigmentation
skin/coat/nails
70 UTSW
has photo
Ap3d1 christian 10 80706978-80742211 bp (-) 80730042 Unknown  pigmentation
skin/coat/nails
71 UTSW Mc4r chubby 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive  adipose tissue
growth/size
72 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
73 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
74 UTSW
has photo
Rab27a concrete 9 73044854-73098501 bp (+) 73082409 Autosomal Recessive  immune system
MCMV susceptibility
pigmentation
skin/coat/nails
75 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
76 UTSW
has photo
Oca2 cotton 7 56239760-56536517 bp (+) 56535968 Autosomal Recessive  skin/coat/nails
77 UTSW
has video
Myo7a coward 7 98051060-98119524 bp (-) 98085466 Autosomal Recessive  behavior/neurological
nervous system
78 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
79 UTSW Tlr9 Cpg11 9 106222598-106226883 bp (+) 106224586 Autosomal Semidominant  TLR signaling defect: TNF production by macrophages
80 UTSW Tlr9 Cpg2 9 106222598-106226883 bp (+) 106226465 Autosomal Semidominant  immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
81 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
82 UTSW Tlr9 Cpg5 9 106222598-106226883 bp (+) 106224689 Autosomal Semidominant  immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
83 UTSW Tlr9 Cpg6 9 106222598-106226883 bp (+) 106226593 Autosomal Semidominant  decrease in response to injected CpG DNA
immune system
TLR signaling defect: TNF production by macrophages
84 UTSW Tlr9 Cpg7 9 106222598-106226883 bp (+) 106225349 Autosomal Semidominant  DSS: sensitive
immune system
TLR signaling defect: TNF production by macrophages
85 UTSW Cd79a crab 7 24897381-24902197 bp (+) 24899175 Autosomal Recessive  decrease in B cells
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
86 UTSW Galc Crabby2 12 98202304-98259459 bp (-) 98234266 Autosomal Semidominant  decrease in body weight
87 UTSW Cd4 craw 6 124864692-124888221 bp (-) 124867746 Autosomal Recessive  decrease in CD4+ T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
88 UTSW
has video
Grid2 crawler 6 63255876-64668282 bp (+) 64429694 Autosomal Recessive  behavior/neurological
growth/size
nervous system
89 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
90 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
91 UTSW
has photo
Foxp3 crusty X 7579676-7595243 bp (+) 7592654 X-linked Recessive  growth/size
hematopoietic system
immune system
lethality-postnatal
limbs/digits/tail phenotype
reproductive system
skin/coat/nails
92 UTSW
has photo
Spink5 crusty2 18 43963235-44022501 bp (+) 43999935 Autosomal Recessive  immune system
skin/coat/nails
93 UTSW Tlr4 cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive  Macrophage necroptosis: low
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
94 UTSW Neurod1 cruz 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
95 UTSW Ltbp3 csp 19 5740904-5758532 bp (+) 5747688 Autosomal Recessive  craniofacial
growth/size
limbs/digits/tail phenotype
skeleton phenotype
96 UTSW
has photo
Tmprss6 cubone 15 78439668-78468634 bp (-) 78446657 Autosomal Recessive  growth/size
skin/coat/nails
97 UTSW
has video
Slc26a4 cul-de-sac 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
98 UTSW
has photo
Rc3h1 curlyfry 1 160906418-160974978 bp (+) 160959399 Autosomal Recessive  decrease in body weight
growth/size
limbs/digits/tail phenotype
99 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
100 UTSW
has video
Hcn2 curveball 10 79716634-79736108 bp (+) 79724786 Autosomal Recessive  behavior/neurological
decrease in body weight
decrease in CD8+ T cells in CD3+ T cells
increase in CD4:CD8
increase in CD4+ T cells in CD3+ T cells
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