Phenotypic Mutations

307 mutations affecting 187 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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1 UTSW Unc93b1 3d 19 3935186-3949340 bp (+) 3944168 Unknown (2;0) DSS: sensitive day 7
immune system
MCMV susceptibility
response to injected CpG DNA - decreased
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 Unknown behavior/neurological
nervous system
3 UTSW Sppl2a abra 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive (1;5) T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
4 UTSW Edaradd achtung 13 12471209-12520450 bp (-) 12478497 Unknown craniofacial
limbs/digits/tail phenotype
skin/coat/nails
5 UTSW Edar achtung2 10 58600789-58675654 bp (-) 58603163 Unknown craniofacial
limbs/digits/tail phenotype
skin/coat/nails
6 UTSW
has video
Tomt add 7 101898373-101903785 bp (-) 101902129 Unknown behavior/neurological
hearing/vestibular/ear
nervous system
7 UTSW Cd8a alfalfa 6 71373427-71379171 bp (+) 71373728 Autosomal Dominant (1;4)
Autosomal Recessive (7;49)

Autosomal Semidominant (6;64)
CD4:CD8 - increased
CD4+ T cells - increased
CD4+ T cells in CD3+ T cells - increased
CD44 MFI in CD8 - increased
CD8+ T cells - decreased
central memory CD8 T cells in CD8 T cells - increased
effector memory CD8 T cells in CD8 T cells - increased
MCMV susceptibility
naive CD8 T cells in CD8 T cells - decreased
post-MCMV CD4+ T cells in CD3+ T cells - increased
post-MCMV CD8+ T cells - decreased
post-MCMV CD8+ T cells in CD3+ T cells - decreased
8 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Unknown hematopoietic competition - disadvantage
immune system
9 UTSW Cd36 almond_joy 5 17781690-17888959 bp (-) 17813088 Autosomal Recessive (1;5) fasting hyperglycemia
10 UTSW Prkcb Almonde 7 122288751-122634402 bp (+) 122582449 Autosomal Recessive (1;5)
Autosomal Semidominant (6;41)
B1 cells - decreased
post-MCMV B1a cells in B1 cells - decreased
post-MCMV B1b cells in B1 cells - increased
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 (8;55) CD4:CD8 - decreased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD8 - increased
CD8+ T cells in CD3+ T cells - increased
effector memory CD8 T cells in CD8 T cells - increased
naive CD8 T cells in CD8 T cells - decreased
12 UTSW Tnfsf13b Applecrisp 8 10006843-10035441 bp (+) 10031534 Autosomal Recessive (1;1)
Autosomal Semidominant (1;5)
B:T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
13 UTSW Dock2 Arches 11 34226815-34783892 bp (-) 34689760 Autosomal Recessive (1;6)
Autosomal Semidominant (3;18)
B1 cells - increased
CD4:CD8 - decreased
CD4+ T cells in CD3+ T cells - decreased
CD8+ T cells in CD3+ T cells - increased
14 UTSW Ltbr armitage 6 125306571-125313885 bp (-) 125312794 Unknown (2;0)
Autosomal Recessive (2;6)
Bone: Lean Fat Ratio (female) - increased
Bone: Lean Mass (female) - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
15 UTSW
has photo
Bicc1 artemis 10 70922832-71159700 bp (-) 71027954 Unknown homeostasis/metabolism
life span-post-weaning/aging
renal/urinary system
16 UTSW Tlr9 Asura 9 106222598-106226883 bp (+) 106224647 Autosomal Semidominant (2;16) TLR signaling defect: hyposensitivity to CpG
17 UTSW Traf3 bananasplit 12 111166370-111267153 bp (+) 111262036 Autosomal Recessive (1;8) T-dependent humoral response defect- decreased antibody response to rSFV
18 UTSW
has photo
Mlph beau 1 90915085-90951142 bp (+) 90928122 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
19 UTSW Rho Bemr3 6 115931927-115938829 bp (+) 115935131 Unknown vision/eye
20 UTSW Rac2 Big_bend 15 78559169-78572783 bp (-) 78565945 Autosomal Dominant (1;2)
Autosomal Recessive (5;12)

Autosomal Semidominant (2;10)
B1 cells - decreased
B1a cells in B1 cells - decreased
B1b cells - increased
21 UTSW Mc4r Big_boned 18 66857715-66860472 bp (-) 66859488 Autosomal Recessive (1;5)
Autosomal Semidominant (5;26)
Body Weight - increased
growth/size
22 UTSW Rac2 bingo 15 78559169-78572783 bp (-) 78564968 Autosomal Recessive (1;6) T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
23 UTSW Blk blaenka 14 63372837-63417187 bp (-) 63384002 Autosomal Recessive (4;20) IgE response to a Cysteine Protease (Papain) - increased
Nlrc4 inflammasome: high response
NLRP3 inflammasome: high response
total IgE level - increased
24 UTSW
has photo
Hps3 blue 3 19995945-20035315 bp (-) 20030796 Autosomal Semidominant (1;1) pigmentation
skin/coat/nails
25 UTSW Cd40 bluebonnet 2 165055627-165072948 bp (+) 165062301 Autosomal Recessive (2;12)
Autosomal Semidominant (1;3)
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
26 UTSW Ticam2 Branch 18 46559155-46574533 bp (-) 46560651 Autosomal Dominant (2;6)
Autosomal Semidominant (2;8)
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
27 UTSW
has photo
Pah bronze 10 87521795-87584136 bp (+) 87570226 Unknown behavior/neurological
homeostasis/metabolism
pigmentation
skin/coat/nails
28 UTSW
has photo
Atp7a brown X 106027276-106124926 bp (+) 106088491 Unknown pigmentation
skin/coat/nails
29 UTSW Adamts20 buckeye 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) pigmentation
skin/coat/nails
30 UTSW
has photo
Dsg4 burrito 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive (1;5) skin/coat/nails
31 UTSW Ptpn6 candle 6 124720707-124738714 bp (-) 124728419 Autosomal Recessive (8;52)
Autosomal Semidominant (3;14)
B cells - decreased
B1 cells - increased
B1a cells - increased
B1a cells in B1 cells - increased
B1b cells - increased
B2 cells - decreased
CD11c+ DCs - increased
CD44 MFI in CD8 - increased
IgD+ B cells - decreased
IgM+ B cells - decreased
macrophages - increased
32 UTSW Cd8b1 Carlsbad 6 71322812-71337451 bp (+) 71334101 Autosomal Recessive (1;4)
Autosomal Semidominant (3;15)
CD4:CD8 - increased
CD4+ T cells in CD3+ T cells - increased
CD8+ T cells in CD3+ T cells - decreased
T-dependent humoral response defect- increased antibody response to rSFV
33 UTSW
has photo
Mmp14 cartoon 14 54431604-54441258 bp (+) 54439999 Unknown craniofacial
growth/size
lethality-embryonic/perinatal
life span-post-weaning/aging
reproductive system
vision/eye
34 UTSW Kit Casper 5 75574916-75656722 bp (+) 75645875 Unknown hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
35 UTSW Prkcq celina 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive (1;6) T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
36 UTSW Oca2 charbon 7 56239760-56536517 bp (+) 56316405 Unknown pigmentation
skin/coat/nails
37 UTSW
has photo
Slc45a2 cheng 15 11000721-11029233 bp (+) 11025868 Unknown (1;0) pigmentation
skin/coat/nails
38 UTSW Fas cherry 19 34290659-34327770 bp (+) 34327140 Autosomal Recessive (4;25) CD4+ T cells - decreased
CD8+ T cells - decreased
neutrophils - increased
NK cells - increased
T cells - decreased
39 UTSW
has photo
Tyrp1 chi 4 80834123-80851719 bp (+) 80840778 Unknown (1;0) pigmentation
skin/coat/nails
40 UTSW
has photo
Ap3d1 christian 10 80706978-80742211 bp (-) 80730042 Autosomal Semidominant (1;0) pigmentation
skin/coat/nails
41 UTSW Mc4r chubby 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive (3;18) adipose tissue
growth/size
42 UTSW Ticam2 Consequential 18 46559155-46574533 bp (-) 46560779 Autosomal Semidominant (2;10) NLRP3 inflammasome: low response
43 UTSW
has photo
Oca2 cotton 7 56239760-56536517 bp (+) 56535968 Autosomal Recessive (1;3) skin/coat/nails
44 UTSW
has video
Myo7a coward 7 98051060-98119524 bp (-) 98085466 Autosomal Recessive (3;17) behavior/neurological
nervous system
45 UTSW Tlr9 Cpg1 9 106222598-106226883 bp (+) 106225007 Unknown (3;0) immune system
MCMV susceptibility
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
46 UTSW Tlr9 Cpg11 9 106222598-106226883 bp (+) 106224586 Unknown (1;0) TLR signaling defect: TNF production by macrophages
47 UTSW Tlr9 Cpg2 9 106222598-106226883 bp (+) 106226465 Unknown (2;0) immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
48 UTSW Tlr9 Cpg3 9 106222598-106226883 bp (+) 106224152 Unknown (3;0) immune system
MCMV susceptibility
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
49 UTSW Tlr9 Cpg5 9 106222598-106226883 bp (+) 106224689 Unknown (2;0) immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
50 UTSW Tlr9 Cpg6 9 106222598-106226883 bp (+) 106226593 Unknown (2;0) immune system
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
51 UTSW Tlr9 Cpg7 9 106222598-106226883 bp (+) 106225349 Unknown (2;0) DSS: sensitive
immune system
TLR signaling defect: TNF production by macrophages
52 UTSW Cd79a crab 7 24897381-24902197 bp (+) 24899175 Unknown (2;0) B cells - decreased
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
53 UTSW Galc Crabby2 12 98202304-98259459 bp (-) 98234266 Autosomal Semidominant (1;7) Body Weight - decreased
54 UTSW Cd22 crullers 7 30865402-30880342 bp (-) 30869883 Autosomal Dominant (1;4)
Autosomal Recessive (10;53)

Autosomal Semidominant (3;18)
B cells - decreased
B1a cells - increased
B1b cells - increased
B2 cells - decreased
IgD MFI in B cells - decreased
post-MCMV B cells - decreased
post-MCMV IgD+ B cells - decreased
post-MCMV IgM+ B cells - decreased
55 UTSW
has photo
Foxp3 crusty X 7579676-7595243 bp (+) 7592654 Unknown growth/size
hematopoietic system
immune system
lethality-postnatal
limbs/digits/tail phenotype
reproductive system
skin/coat/nails
56 UTSW Tlr4 cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive (3;31)
Autosomal Semidominant (3;16)
Macrophage necroptosis: low
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
57 UTSW Neurod1 cruz 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive (5;21) behavior/neurological
Circadian defect: decrease in circadian active phase duration
Circadian defect: decrease in circadian tau activity onset
Circadian defect: decrease in tau chi squared periodogram
hearing/vestibular/ear
58 UTSW Ltbp3 csp 19 5740904-5758532 bp (+) 5747688 Unknown craniofacial
growth/size
limbs/digits/tail phenotype
skeleton phenotype
59 UTSW Themis currant 10 28668360-28883818 bp (+) 28782011 Autosomal Recessive (12;75) CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD8+ T cells in CD3+ T cells - increased
T cells - decreased
60 UTSW
has video
Hcn2 curveball 10 79716634-79736108 bp (+) 79724786 Autosomal Recessive (7;38) behavior/neurological
Body Weight - decreased
CD4:CD8 - increased
CD4+ T cells in CD3+ T cells - increased
CD8+ T cells in CD3+ T cells - decreased
61 UTSW Atp7b daffodil 8 21992785-22060305 bp (-) 21998266 Unknown (1;0) liver/biliary system
MTT Value of PECs - decreased
62 UTSW
has photo
Sox10 Dalmatian 15 79154913-79164490 bp (-) 79163324 Unknown pigmentation
skin/coat/nails
63 UTSW Myd88 Dani_alves 9 119335934-119341411 bp (-) 119337823 Autosomal Semidominant (4;17) TLR signaling defect: hyposensitivity to CpG
TLR signaling defect: hyposensitivity to R848
64 UTSW
has photo
Kdelr1 daniel_gray 7 45872772-45883731 bp (+) 45881621 Unknown B cells - decreased
CD44+ CD4 T cells - increased
CD44+ CD8 T cells - increased
CD8+ T cells - decreased
NK T cells - decreased
65 UTSW Tap2 date 17 34203527-34216321 bp (+) 34212354 Autosomal Recessive (6;61) B:T cells - increased
CD4+ T cells in CD3+ T cells - increased
CD44 MFI in CD8 - increased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
66 UTSW Card11 Dealer 5 140872999-141000596 bp (-) 140885877 Autosomal Semidominant (3;15) B1a cells in B1 cells - decreased
B1b cells in B1 cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
67 UTSW Themis death_valley 10 28668360-28883818 bp (+) 28668727 Autosomal Recessive (5;41)
Autosomal Semidominant (5;25)
B:T cells - increased
CD4:CD8 - decreased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD4 - increased
CD44 MFI in T cells - increased
CD8+ T cells in CD3+ T cells - increased
effector memory CD4 T cells in CD4 T cells - increased
naive CD4 T cells in CD4 T cells - decreased
T cells - decreased
68 UTSW
has video
Rorb dee-no 19 18930605-19111196 bp (-) 18955053 Autosomal Recessive (8;34) behavior/neurological
limbs/digits/tail phenotype
nervous system
69 UTSW
has photo
Mc1r deer 8 123407107-123410744 bp (+) 123407958 Unknown pigmentation
skin/coat/nails
70 UTSW Fbxl3 delargo 14 103080239-103099566 bp (-) 103089418 Autosomal Recessive (4;46)
Autosomal Semidominant (1;14)
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
71 UTSW Rims4 demure 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive (3;14) Body Weight - decreased
growth/size
72 UTSW Tnf Dome 17 35199381-35202007 bp (-) 35201674 Unknown (4;0) TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
73 UTSW Stat1 domino 1 52119440-52161865 bp (+) 52140588 Unknown (3;0) immune system
MCMV proliferation in macrophages - increased
MCMV susceptibility
NK cell response - decreased
response to injected CpG DNA - decreased
RVFV susceptibility
74 UTSW Tlr4 don_knotts 4 66827584-66930284 bp (+) 66841172 Unknown (1;0)
Autosomal Recessive (4;20)
B cells - decreased
B220 MFI in B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
TLR signaling defect: hyposensitivity to LPS
75 UTSW
has photo
Oca2 draco1 7 56239760-56536517 bp (+) 56423352 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
76 UTSW
has photo
Slc45a2 draco2 15 11000721-11029233 bp (+) 11000817 Autosomal Semidominant (1;2) pigmentation
skin/coat/nails
77 UTSW
has photo
Msx2 duke 13 53466884-53473074 bp (-) 53468395 Autosomal Recessive (1;3) skin/coat/nails
vision/eye
78 UTSW Slc6a6 durango 6 91684067-91759063 bp (+) 91723471 Autosomal Recessive (3;40)
Autosomal Semidominant (1;4)
eye: decrease in BM to ILM thickness
vision/eye
79 UTSW Klc1 dwarf 12 111758849-111807844 bp (+) 111795603 Autosomal Recessive (2;13)
Autosomal Semidominant (1;4)
Body Weight - decreased
80 UTSW
has photo
Npr3 eel 15 11839896-11905674 bp (-) 11858647 Unknown growth/size
limbs/digits/tail phenotype
skeleton phenotype
81 APN Muc2 Eeyore 7 141690340-141754693 bp (+) 141693356 Unknown DSS: sensitive
immune system
82 UTSW Slfn2 elektra 11 83065112-83070678 bp (+) 83069600 Unknown (2;0) CD8+ T cells - decreased
CTL killing - decreased
hematopoietic system
immune system
MCMV susceptibility
NK T cells - decreased
83 UTSW Slfn2 elektra2 11 83065112-83070678 bp (+) 83069564 Autosomal Recessive (1;5) T-dependent humoral response defect- decreased antibody response to rSFV
84 UTSW Cd79a elementary 7 24897381-24902197 bp (+) 24899262 Autosomal Recessive (1;7)
Autosomal Semidominant (1;5)
B1b cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
85 UTSW Irf1 Endeka 11 53770014-53778374 bp (+) 53772891 Unknown (2;0) CD8+ T cells - decreased
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
NK cells - decreased
NK T cells - decreased
TLR signaling defect: type I IFN production by macrophages
86 UTSW Ppp3cb everglades 14 20499364-20546573 bp (-) 20530948 Autosomal Recessive (10;61)
Autosomal Semidominant (3;15)
B:T cells - increased
CD4+ T cells - decreased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD8+ T cells - decreased
central memory CD8 T cells in CD8 T cells - increased
effector memory CD8 T cells in CD8 T cells - increased
naive CD8 T cells in CD8 T cells - decreased
NK cells - increased
OVA-specific IgE - increased
T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
87 UTSW Adgre1 F480 17 57358686-57483529 bp (+) 57444063 Unknown immune system
normal phenotype
88 UTSW Hcfc2 Feckless 10 82696160-82742428 bp (+) 82712061 Unknown (2;0) immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
89 UTSW Rab38 fenrir 7 88430273-88491466 bp (+) 88450541 Autosomal Recessive (1;4)
Autosomal Semidominant (1;5)
pigmentation
90 UTSW
has photo
Scd1 flake 19 44394451-44407709 bp (-) 44400330 Unknown endocrine/exocrine gland
immune system
skin/coat/nails
91 UTSW Map3k8 Flojo 18 4331327-4353015 bp (-) 4339548 Autosomal Semidominant (2;10) TLR signaling defect: hyposensitivity to LPS
92 UTSW Cd22 gansu 7 30865402-30880342 bp (-) 30870105 Autosomal Recessive (7;42) B:T cells - decreased
B1a cells - increased
B2 cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
93 UTSW
has photo
Rab27a geodude 9 73044854-73098501 bp (+) 73084981 Autosomal Recessive (2;5) MCMV susceptibility
pigmentation
skin/coat/nails
94 UTSW
has photo
Tyr ghost 7 87427405-87493411 bp (-) 87472495 Unknown pigmentation
skin/coat/nails
95 UTSW
has photo
Ksr2 gigante 5 117414000-117775003 bp (+) 117671449 Unknown (1;0)
Autosomal Recessive (4;18)
adipose tissue
growth/size
96 UTSW Wnt7a gimpy 6 91363981-91411363 bp (-) 91365884 Unknown limbs/digits/tail phenotype
reproductive system
97 UTSW Trpv5 gingame 6 41652173-41680769 bp (-) 41670961 Unknown (1;0) DSS: sensitive
DSS: sensitive day 7
immune system
98 UTSW Pax5 glacier 4 44531145-44710487 bp (-) 44679494 Autosomal Recessive (2;21)
Autosomal Semidominant (1;7)
B1 cells - increased
B1b cells in B1 cells - decreased
99 UTSW Map3k8 gnostic_gospel 18 4331327-4353015 bp (-) 4333965 Unknown (1;0)
Autosomal Dominant (1;3)

Autosomal Recessive (5;24)


Autosomal Semidominant (4;16)
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
100 UTSW
has photo
Alx4 goofy 2 93642384-93681339 bp (+) 93675369 Unknown craniofacial
limbs/digits/tail phenotype
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