Phenotypic Mutations

96 mutations affecting 73 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 96 of 96] per page Full List Export
 
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1 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Unknown hematopoietic competition - disadvantage
immune system
2 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
3 UTSW
has photo
Grhl1 bandit 12 24572287-24617391 bp (+) 24578027 Unknown Body Weight - decreased
growth/size
skin/coat/nails
4 UTSW
has photo
Ap3b1 bella 13 94358960-94566316 bp (+) 94528257 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
5 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
6 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
7 UTSW Mc4r chubby 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive (3;18) adipose tissue
growth/size
8 UTSW
has photo
Rab27a concrete 9 73044854-73098501 bp (+) 73082409 Unknown (1;0) immune system
MCMV susceptibility
pigmentation
skin/coat/nails
9 UTSW Trp53bp1 concur 2 121193281-121271407 bp (-) 121270319 Autosomal Dominant (1;4)
Autosomal Recessive (1;4)
IgD MFI in B cells - decreased
10 UTSW Tlr9 Cpg2 9 106222598-106226883 bp (+) 106226465 Unknown (2;0) immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
11 UTSW
has photo
Tmprss6 cubone 15 78439668-78468634 bp (-) 78446657 Autosomal Recessive (1;8) growth/size
skin/coat/nails
12 UTSW
has video
Slc26a4 cul-de-sac 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive (2;9) behavior/neurological
hearing/vestibular/ear
13 UTSW Nek7 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant (2;10) NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
14 UTSW
has video
Scn8a dan 15 100870683-101045929 bp (+) 101035624 Autosomal Recessive (1;3) limbs/digits/tail phenotype
15 UTSW Rims4 demure 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive (3;14) Body Weight - decreased
growth/size
16 UTSW Sell dim_sum2 1 164061982-164084181 bp (+) 164065661 Autosomal Recessive (4;54) naive CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
17 UTSW
has photo
Oca2 draco1 7 56239760-56536517 bp (+) 56423352 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
18 UTSW
has photo
Slc45a2 draco2 15 11000721-11029233 bp (+) 11000817 Autosomal Semidominant (1;2) pigmentation
skin/coat/nails
19 UTSW Agtpbp1 drunk 13 59449537-59585227 bp (-) 59512323 Unknown behavior/neurological
nervous system
20 UTSW Slfn2 elektra2 11 83065112-83070678 bp (+) 83069564 Autosomal Recessive (1;5) T-dependent humoral response defect- decreased antibody response to rSFV
21 UTSW Ern2 ernie 7 122169893-122186216 bp (-) 122171661 Autosomal Recessive (2;19) DSS: sensitive day 10
DSS: sensitive day 7
22 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
23 UTSW Slc15a4 feeble 5 127595664-127632897 bp (-) 127608770 Unknown (1;0) response to injected CpG DNA - decreased
TLR signaling defect: type I IFN production by pDC
24 UTSW Nfkb1 Finlay 3 135584655-135691547 bp (-) 135595053 Unknown (1;0)
Autosomal Recessive (1;3)

Autosomal Semidominant (2;8)
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
T-dependent humoral response defect- decreased antibody response to rSFV
25 UTSW Map3k8 Flojo 18 4331327-4353015 bp (-) 4339548 Autosomal Semidominant (2;10) TLR signaling defect: hyposensitivity to LPS
26 UTSW Dock2 frazz 11 34226815-34783892 bp (-) 34248572 Unknown (2;0) B cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
27 UTSW Dock2 frizz 11 34226815-34783892 bp (-) 34258184 Unknown (1;0) B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
28 UTSW
has photo
Hps3 gandalf 3 19995945-20035315 bp (-) 20012796 Autosomal Recessive (1;2) pigmentation
skin/coat/nails
29 UTSW Wnt7a gimpy 6 91363981-91411363 bp (-) 91365884 Unknown limbs/digits/tail phenotype
reproductive system
30 UTSW Trpv5 gingame 6 41652173-41680769 bp (-) 41670961 Unknown (1;0) DSS: sensitive
DSS: sensitive day 7
immune system
31 UTSW Gck Grahamcracker 11 5900820-5950081 bp (-) 5902165 Autosomal Semidominant (1;4) 30 min GTT hyperglycemic
32 UTSW Tlr4 Guardiola 4 66827584-66930284 bp (+) 66839303 Unknown (1;0)
Autosomal Recessive (1;6)

Autosomal Semidominant (3;19)
Nlrc4 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
33 UTSW Irf4 honey 13 30749226-30766927 bp (+) 30751751 Unknown (2;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
34 UTSW Rag1 huckle 2 101638282-101649501 bp (-) 101641223 Unknown B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
immune system
35 UTSW Itgb2 Joker 10 77530252-77565708 bp (+) 77549849 Unknown (2;0) hematopoietic system
immune system
NK cell response - decreased
36 UTSW Card11 king 5 140872999-141000596 bp (-) 140891080 Unknown (1;0) CTL killing - decreased
hematopoietic system
immune system
NK cell response - decreased
NK cells - decreased
NK T cells - decreased
skin/coat/nails
37 UTSW Crygd L23 1 65061872-65063452 bp (-) 65063084 Unknown vision/eye
38 UTSW Ccr7 lanzhou 11 99144196-99155077 bp (-) 99145277 Autosomal Recessive (2;11)
Autosomal Semidominant (1;5)
CD4:CD8 - increased
CD4+ T cells - increased
macrophages - decreased
39 APN Tnfaip3 lasvegas 10 19000910-19015657 bp (-) 19010758 Unknown immune system
40 UTSW Pappa2 Lilliputian2 1 158711727-158980490 bp (-) 158834918 Unknown (2;0)
Autosomal Dominant (2;8)

Autosomal Semidominant (1;5)
Body Weight - decreased
Body Weight (Female) - decreased
Circadian defect: decrease in final body weight
growth/size
41 UTSW Pappa2 lilliputian3 1 158711727-158980490 bp (-) 158782403 Autosomal Recessive (2;10) Body Weight - decreased
42 APN Ptprc lochy 1 138062861-138175708 bp (-) 138083790 Unknown B cells - decreased
CD4+ T cells - decreased
CD8+ T cells - decreased
hematopoietic system
immune system
43 UTSW Rhbdf2 Lostnf 11 116598165-116627019 bp (-) 116600161 Autosomal Semidominant (6;24) TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
44 UTSW Rhbdf2 Lostnf2 11 116598165-116627019 bp (-) 116600191 Autosomal Semidominant (7;57) TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to R848
45 UTSW Tlr4 lps3 4 66827584-66930284 bp (+) 66841097 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
46 UTSW Tlr6 m2sd2 5 64953106-64960048 bp (-) 6540076 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
47 APN Cd4 maat 6 124864692-124888221 bp (-) 124866684 Unknown CD4+ T cells - decreased
immune system
48 UTSW
has video
Cars2 madcow 8 11514021-11550771 bp (-) 11526034 Unknown behavior/neurological
49 UTSW Tlr9 Meager 9 106222598-106226883 bp (+) 106224139 Unknown (1;0) immune system
TLR signaling defect: type I IFN production by pDC
50 UTSW
has photo
Gsdma3 Michelin 11 98626360-98638226 bp (+) 98637573 Unknown skin/coat/nails
51 UTSW Tlr4 milquetoast 4 66827584-66930284 bp (+) 66839444 Autosomal Recessive (1;4) TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
52 UTSW Bloc1s5 minnie 13 38602709-38635109 bp (-) 38606734 Unknown hearing/vestibular/ear
pigmentation
skin/coat/nails
53 APN Zap70 murdock 1 36761798-36782818 bp (+) 36779704 Unknown CD4+ T cells - decreased
CD8 response - decreased
CD8+ T cells - decreased
immune system
54 UTSW Myd88 Myd88rev1 9 119335934-119341411 bp (-) 119337394 Unknown normal phenotype
55 UTSW
has photo
Oca2 narwhal 7 56239760-56536517 bp (+) 56295498 Autosomal Recessive (2;9) pigmentation
skin/coat/nails
56 UTSW Cd36 oblivious 5 17781690-17888959 bp (-) 17874966 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
vision/eye
57 UTSW Tyr pale_rider 7 87427405-87493411 bp (-) 87438023 Unknown pigmentation
58 UTSW
has photo
Hps3 pam_gray 3 19995945-20035315 bp (-) 20017173 Unknown (1;0) DSS: sensitive day 7
pigmentation
skin/coat/nails
59 UTSW
has photo
Adamts20 pikachu 15 94270163-94465418 bp (-) 94345990 Autosomal Recessive (1;1) pigmentation
skin/coat/nails
60 UTSW Tbk1 Pioneer 10 121546455-121586794 bp (-) 121578690 Unknown impaired response to dsDNA- type I IFN production by macrophages
lethality-embryonic/perinatal
61 UTSW
has photo
Krt25 Plush 11 99315516-99322951 bp (-) 99322635 Unknown skin/coat/nails
62 UTSW Myd88 pococurante 9 119335934-119341411 bp (-) 119338114 Unknown (4;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
63 UTSW Krt33a Polished2 11 100011195-100016212 bp (-) 100015850 Unknown skin/coat/nails
64 UTSW
has photo
Adamts20 poliwag 15 94270163-94465418 bp (-) 94394622 Autosomal Recessive (1;4) pigmentation
skin/coat/nails
65 UTSW
has photo
Ednrb pongo 14 103814625-103844173 bp (-) 103823274 Autosomal Recessive (1;3) digestive/alimentary
growth/size
life span-post-weaning/aging
skin/coat/nails
66 UTSW Kit Pretty2 5 75574916-75656722 bp (+) 75649550 Unknown hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
67 UTSW Ppp3cb Redwood 14 20499364-20546573 bp (-) 20509440 Autosomal Semidominant (2;11) central memory CD8 T cells in CD8 T cells - increased
68 UTSW Stat1 roccoco 1 52119440-52161865 bp (+) 52123209 Autosomal Recessive (10;105) CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44 MFI in T cells - increased
CD44+ CD4 T cells - increased
CD44+ T cells - increased
CTL killing - decreased
effector memory CD4 T cells in CD4 T cells - increased
effector memory CD8 T cells in CD8 T cells - increased
naive CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
69 UTSW Nfkb1 Roomba 3 135584655-135691547 bp (-) 135612412 Autosomal Recessive (1;4)
Autosomal Semidominant (4;22)
central memory CD8 T cells in CD8 T cells - increased
DSS: sensitive day 10
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - decreased
70 APN Tap1 rose 17 34187553-34197225 bp (+) 34194940 Unknown CD8+ T cells - decreased
hematopoietic system
immune system
71 UTSW Prkdc Screamer10 16 15637866-15842235 bp (+) 15768025 Autosomal Semidominant (1;4) T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
72 UTSW Prkdc screamer5 16 15637866-15842235 bp (+) 15687404 Autosomal Recessive (7;39) post-MCMV CD44 MFI in CD4 - increased
post-MCMV CD44 MFI in CD8 - increased
post-MCMV CD44 MFI in T cells - increased
post-MCMV CD44+ CD4 T cells - increased
post-MCMV CD44+ CD8 T cells - increased
post-MCMV CD44+ T cells - increased
post-MCMV naive CD8 T cells in CD8 T cells - decreased
73 UTSW Prkdc Screamer9 16 15637866-15842235 bp (+) 15734922 Autosomal Semidominant (1;4) CD8+ T cells in CD3+ T cells - decreased
74 UTSW Grm7 shaky 6 110645581-111567230 bp (+) 111495791 Autosomal Recessive (1;2) behavior/neurological
nervous system
75 UTSW Diaph1 sheer 18 37843601-37935476 bp (-) 37896093 Autosomal Recessive (2;8)
Autosomal Semidominant (1;6)
B1 cells - decreased
CD8+ T cells - decreased
T cells - decreased
76 UTSW Map3k8 Sluggish 18 4331327-4353015 bp (-) 4339608 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
77 UTSW
has video
Pcdh15 spaz 10 73099342-74649737 bp (+) 74210425 Autosomal Recessive (1;5) behavior/neurological
78 UTSW Atp11c spelling X 60223290-60592698 bp (-) 60290036 Unknown B cells - decreased
hematopoietic system
homeostasis/metabolism
liver/biliary system
reproductive system
79 UTSW
has photo
Krt33a Spikey 11 100011195-100016212 bp (-) 100011939 Unknown skin/coat/nails
80 UTSW
has photo
Ptpn6 spin 6 124720707-124738714 bp (-) 124728559 Unknown hematopoietic system
immune system
81 UTSW Adamts20 splotch2 15 94270163-94465418 bp (-) 94335561 Unknown pigmentation
skin/coat/nails
82 UTSW Adgrf5 sweetie 17 43389466-43459557 bp (+) 43450983 Autosomal Recessive (1;5) 30 min GTT hyperglycemic
83 UTSW Jak3 thistle 8 71676296-71690575 bp (+) 71685383 Autosomal Recessive (30;309) B cells - decreased
B:T cells - decreased
B1 cells - decreased
CD11c+ DCs - increased
CD4:CD8 - increased
CD4+ T cells - decreased
CD44 MFI in T cells - increased
CD44+ T cells - decreased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
effector memory CD8 T cells in CD8 T cells - increased
IgD+ B cells - decreased
IgM+ B cells - decreased
immune system
macrophages - increased
naive CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
NK cells - decreased
ratio of OVA-specific IgE over the total IgE - increased
T cells - decreased
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
total IgE level - decreased
84 APN Hnrnpll thunder 17 80029487-80062268 bp (-) 80053571 Unknown CD4+ T cells - decreased
CD8+ T cells - decreased
immune system
85 UTSW Prkcb Tigris 7 122288751-122634402 bp (+) 122424977 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
86 UTSW Zap70 trebia 1 36761798-36782818 bp (+) 36781025 Unknown CD4+ T cells - decreased
CD8+ T cells - decreased
hematopoietic competition - disadvantage
immune system
87 UTSW Tlr3 Ultraman 8 45395665-45410608 bp (-) 45402981 Unknown (1;0)
Autosomal Semidominant (2;27)
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: hyposensitivity to poly I:C + IFNg
88 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
89 UTSW Trp53bp1 verily 2 121193281-121271407 bp (-) 121211313 Autosomal Recessive (1;6)
Autosomal Semidominant (1;4)
IgD MFI in B cells - decreased
90 UTSW Mapk3 wabasha 7 126759601-126765819 bp (+) 126763512 Autosomal Recessive (2;10) NLRP3 inflammasome: low response
91 UTSW Zap70 wanna3 1 36761798-36782818 bp (+) 36778218 Autosomal Recessive (24;433)
Autosomal Semidominant (1;4)
B cells - increased
B:T cells - increased
CD4:CD8 - increased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD4 - increased
CD44 MFI in CD8 - increased
CD44+ CD4 T cells - decreased
CD44+ CD8 T cells - decreased
CD44+ T cells - decreased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
central memory CD4 T cells in CD4 T cells - increased
central memory CD8 T cells in CD8 T cells - increased
effector memory CD4 T cells in CD4 T cells - increased
effector memory CD8 T cells in CD8 T cells - increased
IgD+ B cells - increased
IgM+ B cells - increased
naive CD4 T cells in CD4 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
OVA-specific IgE - decreased
T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
92 UTSW
has photo
Adam17 wavedx 12 21323509-21373632 bp (-) 21340750 Unknown DSS: sensitive
skin/coat/nails
vision/eye
93 UTSW Cd8a wenzhou 6 71373427-71379171 bp (+) 71373872 Autosomal Recessive (5;44) CD4:CD8 - increased
CD8+ T cells - decreased
CD8+ T cells in CD3+ T cells - decreased
effector memory CD8 T cells in CD8 T cells - decreased
naive CD8 T cells in CD8 T cells - decreased
94 UTSW
has video
Atcay wobbley 10 81204508-81230833 bp (-) 81220573 Unknown behavior/neurological
nervous system
95 UTSW Ruvbl2 Worker 7 45421852-45438096 bp (-) 45431318 Unknown (2;0) CD4+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
96 UTSW Med30 zeitgeist 15 52712445-52730431 bp (+) 52712639 Unknown (1;0) cardiovascular system
hematopoietic system
life span-post-weaning/aging
NK cells - decreased
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