Phenotypic Mutations

569 mutations affecting 273 genes are currently displayed.
Mutations Mapped and Identified Based on Phenotype
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1 APN Atp11c 18nih30a X 60223290-60592698 bp (-) 36608577 Unknown anemia
B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
2 APN Atp11c ambrosius X 60223290-60592698 bp (-) 36608577 Unknown anemia
B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
3 APN Dock8 captain_morgan 19 24999529-25202432 bp (+) 25127711 Unknown B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
immune system
4 APN Muc2 Eeyore 7 141690340-141754693 bp (+) 141693356 Unknown DSS: sensitive
immune system
5 APN Muc2 kenny 7 141690340-141754693 bp (+) Unknown DSS: sensitive
immune system
6 APN Tnfaip3 lasvegas 10 19000910-19015657 bp (-) 19010758 Unknown immune system
7 APN Ptprc lochy 1 138062861-138175708 bp (-) 138083790 Unknown B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
hematopoietic system
immune system
8 APN Cd4 maat 6 124864692-124888221 bp (-) 124866684 Unknown CD4+ T cells - decreased
immune system
9 APN Zap70 mrtless 1 36761798-36782818 bp (+) 36781149 Unknown CD4+ T cells - decreased
CD8 response - decreased
CD8+ T cells - decreased
immune system
10 APN Zap70 murdock 1 36761798-36782818 bp (+) 36779704 Unknown CD4+ T cells - decreased
CD8 response - decreased
CD8+ T cells - decreased
immune system
11 APN Dock8 primurus 19 24999529-25202432 bp (+) 25183609 Unknown B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
immune system
12 APN Tap1 rose 17 34187553-34197225 bp (+) 34194940 Unknown CD8+ T cells - decreased
hematopoietic system
immune system
13 APN Rc3h1 sanroque 1 160906418-160974978 bp (+) 160940830 Unknown autoimmunity
immune system
14 APN Cd4 seshat 6 124864692-124888221 bp (-) 124872977 Unknown CD4+ T cells - decreased
immune system
15 APN Cd4 thoth 6 124864692-124888221 bp (-) 124873140 Unknown CD4+ T cells - decreased
immune system
16 APN Hnrnpll thunder 17 80029487-80062268 bp (-) 80053571 Unknown CD4+ T cells - decreased
CD8+ T cells - decreased
immune system
17 APN Prkcb Tilcara 7 122288751-122634402 bp (+) 122595005 Unknown 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 Unknown CD8 response - decreased
hematopoietic system
immune system
NK cell response - decreased
NK cells - decreased
NK T cells - decreased
skin/coat/nails
19 APN Muc2 Winnie 7 141690340-141754693 bp (+) 141699460 Unknown DSS: sensitive
DSS: sensitive day 7
immune system
20 APN Nfkb2 xander 19 46304737-46312090 bp (+) Unknown B cells - decreased
immune system
21 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
22 UTSW
has photo
 Rorb 4-limb_clasper 19 18930605-19111196 bp (-) 18983351 Unknown behavior/neurological
nervous system
23 UTSW
has photo
 Lyst 50-cal 13 13590409-13777440 bp (+) 13708212 Autosomal Recessive (9;84) effector memory CD4 T cells in CD4 T cells - increased
LPS-induced Necroptosis - increased
MCMV susceptibility
pigmentation
skin/coat/nails
24 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
25 UTSW Sppl2a abra2 2 126890391-126933235 bp (-) 126920313 Autosomal Recessive (5;44)
Autosomal Semidominant (1;4) 		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 Unknown craniofacial
limbs/digits/tail phenotype
skin/coat/nails
27 UTSW Edar achtung2 10 58600789-58675654 bp (-) 58603163 Unknown craniofacial
limbs/digits/tail phenotype
skin/coat/nails
28 UTSW
has video
 Tomt add 7 101898373-101903785 bp (-) 101902129 Unknown behavior/neurological
hearing/vestibular/ear
nervous system
29 UTSW Itgax Adendritic 7 128129547-128150656 bp (+) 128148572 Autosomal Recessive (1;7)
Autosomal Semidominant (2;20) 		CD11b+ DCs in CD11c+ cells - decreased
CD11c+ DCs - decreased
pDCs in CD11c+ cells - decreased
30 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
31 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Unknown hematopoietic competition - disadvantage
immune system
32 UTSW Cd36 almond_joy 5 17781690-17888959 bp (-) 17813088 Autosomal Recessive (1;5) fasting hyperglycemia
33 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
34 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
35 UTSW Hr angie 14 70552212-70573548 bp (+) 70567833 Autosomal Recessive (1;5) skin/coat/nails
36 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Unknown (1;0) digestive/alimentary
hearing/vestibular/ear
renal/urinary system
37 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
38 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
39 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4) 		adipose tissue
Body Weight - increased
growth/size
40 UTSW Alms1 ares2 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (7;58)
Autosomal Semidominant (2;9) 		fasting hyperinsulinemia
high insulin levels after a 30-minute glucose challenge
Pfizer: increase in HOMA Residual
Pfizer: increase in HOMA-IR
41 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
42 UTSW
has photo
 Bicc1 artemis 10 70922832-71159700 bp (-) 71027954 Unknown homeostasis/metabolism
life span-post-weaning/aging
renal/urinary system
43 UTSW Fcer2a arum 8 3681737-3694174 bp (-) 3688796 Autosomal Recessive (5;32) B cells - decreased
CD11c+ DCs - increased
IgD+ B cells - decreased
IgM+ B cells - decreased
neutrophils - increased
44 UTSW Tlr9 Asura 9 106222598-106226883 bp (+) 106224647 Autosomal Semidominant (2;16) TLR signaling defect: hyposensitivity to CpG
45 UTSW Eif2ak4 atchoum 2 118388618-118475234 bp (+) 118400653 Unknown (2;0) adenovirus infection of macrophages - increased
immune system
MCMV proliferation in macrophages - increased
46 UTSW Traf3 bananasplit 12 111166370-111267153 bp (+) 111262036 Autosomal Recessive (1;8) T-dependent humoral response defect- decreased antibody response to rSFV
47 UTSW
has photo
 Grhl1 bandit 12 24572287-24617391 bp (+) 24578027 Unknown Body Weight - decreased
growth/size
skin/coat/nails
48 UTSW Gk5 barrener 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive (4;24)
Autosomal Semidominant (1;4) 		CD44+ CD8 T cells - increased
CD8+ T cells - increased
CD8+ T cells in CD3+ T cells - increased
skin/coat/nails
49 UTSW
has photo
 Frem1 bat 4 82897927-83052339 bp (-) 82983060 Unknown limbs/digits/tail phenotype
renal/urinary system
skin/coat/nails
vision/eye
50 UTSW
has photo
 Mlph beau 1 90915085-90951142 bp (+) 90928122 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
51 UTSW Ptprc belittle 1 138062861-138175708 bp (-) 138137493 Unknown CD4+ T cells - decreased
CD8+ T cells - decreased
hematopoietic system
immune system
52 UTSW
has photo
 Ap3b1 bella 13 94358960-94566316 bp (+) 94528257 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
53 UTSW Rho Bemr3 6 115931927-115938829 bp (+) 115935131 Unknown vision/eye
54 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
55 UTSW Mc4r Big_boned 18 66857715-66860472 bp (-) 66859488 Autosomal Recessive (1;5)
Autosomal Semidominant (5;26) 		Body Weight - increased
growth/size
56 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
57 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
58 UTSW
has photo
 Hps3 blue 3 19995945-20035315 bp (-) 20030796 Autosomal Semidominant (1;1) pigmentation
skin/coat/nails
59 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
60 UTSW Ltbr bonsai 6 125306571-125313885 bp (-) 125312770 Autosomal Recessive (3;20) NK killing - decreased
NK T cells - increased
61 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
62 UTSW
has photo
 Pah bronze 10 87521795-87584136 bp (+) 87570226 Unknown behavior/neurological
homeostasis/metabolism
pigmentation
skin/coat/nails
63 UTSW
has photo
 Atp7a brown X 106027276-106124926 bp (+) 106088491 Unknown pigmentation
skin/coat/nails
64 UTSW Malt1 bryce_canyon 18 65430963-65478823 bp (+) 65462915 Autosomal Recessive (3;10)
Autosomal Semidominant (1;3) 		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
65 UTSW Adamts20 buckeye 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) pigmentation
skin/coat/nails
66 UTSW Tlr4 bugsy 4 66827584-66930284 bp (+) 66839254 Autosomal Recessive (3;27) Macrophage necroptosis: high
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
67 UTSW
has photo
 Ap3b1 bullet_gray 13 94358960-94566316 bp (+) 94451087 Unknown (2;0) immune system
MCMV susceptibility
pigmentation
skin/coat/nails
68 UTSW Nfkbid bumble 7 30421732-30428746 bp (+) 30425411 Unknown (2;0) B cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
69 UTSW Apbb2 bund 5 66298861-66618828 bp (-) 66400255 Autosomal Recessive (1;3) 30 min GTT hyperglycemic
70 UTSW
has photo
 Dsg4 burrito 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive (1;5) skin/coat/nails
71 UTSW
has photo
 Lepr business_class 4 101717404-101815352 bp (+) 101764872 Unknown adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
72 UTSW Blnk busy 19 40928927-40994535 bp (-) 40952391 Unknown (2;0) B cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
73 UTSW Tyrp1 butter 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive (1;7) pigmentation
skin/coat/nails
74 UTSW
has photo
 Tyrp1 ca-los 4 80834123-80851719 bp (+) 80844868 Unknown (2;0)
Autosomal Recessive (1;1) 		pigmentation
skin/coat/nails
75 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
76 UTSW Dock2 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive (6;45) OVA-specific IgE - increased
total IgE level - increased
77 UTSW
has photo
 Slc45a2 cardigan 15 11000721-11029233 bp (+) 11022172 Unknown pigmentation
skin/coat/nails
78 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
79 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
80 UTSW Kit Casper 5 75574916-75656722 bp (+) 75645875 Unknown hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
81 UTSW Prkcq celina 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive (1;6) T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
82 UTSW Prkcq celina2 2 11172108-11301222 bp (+) 11226986 Autosomal Recessive (1;4) T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
83 UTSW Zeb1 cellophane 18 5591860-5775467 bp (+) 5770554 Unknown (3;0) T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
84 UTSW Oca2 charbon 7 56239760-56536517 bp (+) 56316405 Unknown pigmentation
skin/coat/nails
85 UTSW
has photo
 Lyst charlotte_gray 13 13590409-13777440 bp (+) 13602026 Unknown pigmentation
skin/coat/nails
86 UTSW
has photo
 Lyst charzard 13 13590409-13777440 bp (+) 13647083 Autosomal Recessive (1;1) pigmentation
skin/coat/nails
87 UTSW
has photo
 Slc45a2 cheng 15 11000721-11029233 bp (+) 11025868 Unknown (1;0) pigmentation
skin/coat/nails
88 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
89 UTSW
has photo
 Lepr cherub 4 101717404-101815352 bp (+) 101768063 Unknown adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
90 UTSW Rorc chestnut 3 94372831-94397839 bp (+) 94377609 Autosomal Recessive (4;22)
Autosomal Semidominant (3;14) 		CD4+ T cells - decreased
CD8+ T cells - decreased
91 UTSW
has photo
 Tyrp1 chi 4 80834123-80851719 bp (+) 80840778 Unknown (1;0) pigmentation
skin/coat/nails
92 UTSW
has photo
 Ap3d1 christian 10 80706978-80742211 bp (-) 80730042 Autosomal Semidominant (1;0) pigmentation
skin/coat/nails
93 UTSW Mc4r chubby 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive (3;18) adipose tissue
growth/size
94 UTSW Jak3 citron 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive (6;33)
Autosomal Semidominant (1;5) 		B cells - increased
B:T cells - increased
cellular phenotype
hematopoietic system
IgD+ B cells - increased
IgM+ B cells - increased
immune system
95 UTSW Themis cloudies 10 28668360-28883818 bp (+) 28761199 Autosomal Recessive (18;248) B:T cells - increased
CD4:CD8 - decreased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - increased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD44+ CD8 T cells - increased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - increased
central memory CD4 T cells in CD4 T cells - increased
central memory CD8 T cells in CD8 T cells - increased
CTL killing - decreased
effector memory CD4 T cells in CD4 T cells - increased
naive CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
T cells - decreased
96 UTSW Prkdc clover 16 15637866-15842235 bp (+) 15702157 Unknown T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
97 UTSW
has photo
 Rab27a concrete 9 73044854-73098501 bp (+) 73082409 Unknown (1;0) immune system
MCMV susceptibility
pigmentation
skin/coat/nails
98 UTSW Trp53bp1 concur 2 121193281-121271407 bp (-) 121270319 Autosomal Dominant (1;4)
Autosomal Recessive (1;4) 		IgD MFI in B cells - decreased
99 UTSW Ticam2 Consequential 18 46559155-46574533 bp (-) 46560779 Autosomal Semidominant (2;10) NLRP3 inflammasome: low response
100 UTSW Ppp3cb Copacabana 14 20499364-20546573 bp (-) 20530942 Autosomal Dominant (1;4)
Autosomal Recessive (4;21)

Autosomal Semidominant (8;48) 		B:T cells - increased
CD4+ T cells - decreased
CD44 MFI in CD8 - increased
CD8+ T cells - decreased
central memory CD8 T cells in CD8 T cells - increased
Circadian defect: decreased wheel revs/24H
NK cells - increased
T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
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