Phenotypic Mutations

299 mutations affecting 183 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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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 Edaradd achtung 13 12471209-12520450 bp (-) 12478497 Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
skin/coat/nails
5 UTSW Edar achtung2 10 58600789-58675654 bp (-) 58603163 Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
skin/coat/nails
6 UTSW
has video
Tomt add 7 101898373-101903785 bp (-) 101902129 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
nervous system
7 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
8 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Autosomal Recessive  hematopoietic competition - disadvantage
immune system
9 UTSW Cd36 almond_joy 5 17781690-17888959 bp (-) 17813088 Autosomal Recessive  fasting hyperglycemia
10 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
11 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
12 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
13 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
14 UTSW
has photo
Bicc1 artemis 10 70922832-71159700 bp (-) 71027954 Autosomal Recessive  homeostasis/metabolism
life span-post-weaning/aging
renal/urinary system
15 UTSW Tlr9 Asura 9 106222598-106226883 bp (+) 106224647 Autosomal Semidominant  TLR signaling defect: hyposensitivity to CpG
16 UTSW Traf3 bananasplit 12 111166370-111267153 bp (+) 111262036 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
17 UTSW
has photo
Mlph beau 1 90915085-90951142 bp (+) 90928122 Autosomal Recessive  pigmentation
skin/coat/nails
18 UTSW Rho Bemr3 6 115931927-115938829 bp (+) 115935131 Autosomal Semidominant  vision/eye
19 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
20 UTSW Mc4r Big_boned 18 66857715-66860472 bp (-) 66859488 Autosomal Semidominant  growth/size
increase in body weight
21 UTSW Rac2 bingo 15 78559169-78572783 bp (-) 78564968 Unknown  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
22 UTSW Blk blaenka 14 63372837-63417187 bp (-) 63384002 Autosomal Recessive  increase in IgE response to a Cysteine Protease (Papain)
increase in total IgE level
23 UTSW
has photo
Hps3 blue 3 19995945-20035315 bp (-) 20030796 Unknown  pigmentation
skin/coat/nails
24 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
25 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
26 UTSW
has photo
Pah bronze 10 87521795-87584136 bp (+) 87570226 Autosomal Recessive  behavior/neurological
homeostasis/metabolism
pigmentation
skin/coat/nails
27 UTSW
has photo
Atp7a brown X 106027276-106124926 bp (+) 106088491 X-linked Recessive  pigmentation
skin/coat/nails
28 UTSW Adamts20 buckeye 15 94270163-94465418 bp (-) 94341087 Autosomal Recessive  pigmentation
skin/coat/nails
29 UTSW
has photo
Dsg4 burrito 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive  skin/coat/nails
30 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
31 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
32 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
33 UTSW Kit Casper 5 75574916-75656722 bp (+) 75645875 Autosomal Dominant  hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
34 UTSW Prkcq celina 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
35 UTSW Oca2 charbon 7 56239760-56536517 bp (+) 56316405 Autosomal Recessive  pigmentation
skin/coat/nails
36 UTSW
has photo
Slc45a2 cheng 15 11000721-11029233 bp (+) 11025868 Autosomal Recessive  pigmentation
skin/coat/nails
37 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
38 UTSW
has photo
Tyrp1 chi 4 80834123-80851719 bp (+) 80840778 Autosomal Recessive  pigmentation
skin/coat/nails
39 UTSW
has photo
Ap3d1 christian 10 80706978-80742211 bp (-) 80730042 Unknown  pigmentation
skin/coat/nails
40 UTSW Mc4r chubby 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive  adipose tissue
growth/size
41 UTSW
has photo
Oca2 cotton 7 56239760-56536517 bp (+) 56535968 Autosomal Recessive  skin/coat/nails
42 UTSW
has video
Myo7a coward 7 98051060-98119524 bp (-) 98085466 Autosomal Recessive  behavior/neurological
nervous system
43 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
44 UTSW Tlr9 Cpg11 9 106222598-106226883 bp (+) 106224586 Autosomal Semidominant  TLR signaling defect: TNF production by macrophages
45 UTSW Tlr9 Cpg2 9 106222598-106226883 bp (+) 106226465 Autosomal Semidominant  immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
46 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
47 UTSW Tlr9 Cpg5 9 106222598-106226883 bp (+) 106224689 Autosomal Semidominant  immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
48 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
49 UTSW Tlr9 Cpg7 9 106222598-106226883 bp (+) 106225349 Autosomal Semidominant  DSS: sensitive
immune system
TLR signaling defect: TNF production by macrophages
50 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
51 UTSW Galc Crabby2 12 98202304-98259459 bp (-) 98234266 Autosomal Semidominant  decrease in body weight
52 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
53 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
54 UTSW Tlr4 cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive  Macrophage necroptosis: low
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
55 UTSW Neurod1 cruz 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
56 UTSW Ltbp3 csp 19 5740904-5758532 bp (+) 5747688 Autosomal Recessive  craniofacial
growth/size
limbs/digits/tail phenotype
skeleton phenotype
57 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
58 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
59 UTSW Atp7b daffodil 8 21992785-22060305 bp (-) 21998266 Unknown  liver/biliary system
MTT value of PECs: decreased
60 UTSW
has photo
Sox10 Dalmatian 15 79154913-79164490 bp (-) 79163324 Autosomal Dominant  pigmentation
skin/coat/nails
61 UTSW Myd88 Dani_alves 9 119335934-119341411 bp (-) 119337823 Autosomal Semidominant  TLR signaling defect: hyposensitivity to CpG
TLR signaling defect: hyposensitivity to R848
62 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
63 UTSW Tap2 date 17 34203527-34216321 bp (+) 34212354 Autosomal Recessive  decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
increase in B:T cells
increase in CD4+ T cells in CD3+ T cells
increase in CD44 MFI in CD8
64 UTSW Card11 dealer 5 140872999-141000596 bp (-) 140885877 Autosomal Recessive  decrease in B1a cells in B1 cells
increase in B1b cells in B1 cells
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
65 UTSW Themis death_valley 10 28668360-28883818 bp (+) 28668727 Autosomal Recessive  decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in naive CD4 T cells in CD4 T cells
decrease in T cells
increase in B:T cells
increase in CD44 MFI in CD4
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
66 UTSW
has video
Rorb dee-no 19 18930605-19111196 bp (-) 18955053 Autosomal Recessive  behavior/neurological
limbs/digits/tail phenotype
nervous system
67 UTSW
has photo
Mc1r deer 8 123407107-123410744 bp (+) 123407958 Unknown  pigmentation
skin/coat/nails
68 UTSW Fbxl3 delargo 14 103080239-103099566 bp (-) 103089418 Autosomal Recessive  Circadian defect: decrease in circadian active phase duration
Circadian defect: decrease in circadian tau activity onset
Circadian defect: increase in circadian tau DD by eye
Circadian defect: increase in tau chi squared periodogram
Circadian rhythm
fasting hyperglycemia
69 UTSW Rims4 demure 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive  decrease in body weight
growth/size
70 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
71 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
72 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
73 UTSW
has photo
Oca2 draco1 7 56239760-56536517 bp (+) 56423352 Autosomal Recessive  pigmentation
skin/coat/nails
74 UTSW
has photo
Slc45a2 draco2 15 11000721-11029233 bp (+) 11000817 Autosomal Recessive  pigmentation
skin/coat/nails
75 UTSW
has photo
Msx2 duke 13 53466884-53473074 bp (-) 53468395 Autosomal Recessive  skin/coat/nails
vision/eye
76 UTSW Slc6a6 durango 6 91684067-91759063 bp (+) 91723471 Autosomal Recessive  eye: decrease in BM to ILM thickness
vision/eye
77 UTSW Klc1 dwarf 12 111758849-111807844 bp (+) 111795603 Autosomal Recessive  decrease in body weight
78 UTSW
has photo
Npr3 eel 15 11839896-11905674 bp (-) 11858647 Autosomal Recessive  growth/size
limbs/digits/tail phenotype
skeleton phenotype
79 APN Muc2 Eeyore 7 141690340-141754693 bp (+) 141693356 Autosomal Semidominant  DSS: sensitive
immune system
80 UTSW Slfn2 elektra 11 83065112-83070678 bp (+) 83069600 Autosomal Recessive  decrease in CD8 response
decrease in CD8+ T cells
decrease in NK T cells
hematopoietic system
immune system
MCMV susceptibility
81 UTSW Slfn2 elektra2 11 83065112-83070678 bp (+) 83069564 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
82 UTSW Cd79a elementary 7 24897381-24902197 bp (+) 24899262 Autosomal Recessive  decrease in B1b cells
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
83 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
84 UTSW Ppp3cb everglades 14 20499364-20546573 bp (-) 20530948 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
decrease in naive CD8 T cells in CD8 T cells
decrease in T cells
increase in B:T cells
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in central memory CD8 T cells in CD8 T cells
increase in effector memory CD8 T cells in CD8 T cells
increase in NK cells
increase in OVA-specific IgE
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
85 UTSW Adgre1 F480 17 57358686-57483529 bp (+) 57444063 Autosomal Semidominant  immune system
normal phenotype
86 UTSW Rab38 fenrir 7 88430273-88491466 bp (+) 88450541 Autosomal Recessive  pigmentation
87 UTSW
has photo
Scd1 flake 19 44394451-44407709 bp (-) 44400330 Autosomal Recessive  endocrine/exocrine gland
immune system
skin/coat/nails
88 UTSW Map3k8 Flojo 18 4331327-4353015 bp (-) 4339548 Autosomal Semidominant  TLR signaling defect: hyposensitivity to LPS
89 UTSW Cd22 gansu 7 30865402-30880342 bp (-) 30870105 Autosomal Recessive  decrease in B:T cells
decrease in B2 cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in B1a cells
90 UTSW
has photo
Rab27a geodude 9 73044854-73098501 bp (+) 73084981 Autosomal Recessive  MCMV susceptibility
pigmentation
skin/coat/nails
91 UTSW
has photo
Tyr ghost 7 87427405-87493411 bp (-) 87472495 Autosomal Recessive  pigmentation
skin/coat/nails
92 UTSW
has photo
Ksr2 gigante 5 117414000-117775003 bp (+) 117671449 Autosomal Recessive  adipose tissue
growth/size
93 UTSW Wnt7a gimpy 6 91363981-91411363 bp (-) 91365884 Autosomal Recessive  limbs/digits/tail phenotype
reproductive system
94 UTSW Trpv5 gingame 6 41652173-41680769 bp (-) 41670961 Autosomal Recessive  DSS: sensitive
DSS: sensitive day 7
immune system
95 UTSW Pax5 glacier 4 44531145-44710487 bp (-) 44679494 Autosomal Recessive  decrease in B1b cells in B1 cells
increase in B1 cells
96 UTSW Map3k8 gnostic_gospel 18 4331327-4353015 bp (-) 4333965 Autosomal Recessive  immune system
TLR signaling defect: hyposensitivity to CpG
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to poly I:C
97 UTSW
has photo
Alx4 goofy 2 93642384-93681339 bp (+) 93675369 Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
98 UTSW Gck Grahamcracker 11 5900820-5950081 bp (-) 5902165 Autosomal Semidominant  30 min GTT hyperglycemic
99 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
100 UTSW
has video
Rorb grasshopper 19 18930605-19111196 bp (-) 19110557 Autosomal Recessive  behavior/neurological
nervous system
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