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
 
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Phenotypic Category question?
1 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Autosomal Recessive  hematopoietic competition - disadvantage
immune system
2 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
3 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
4 UTSW
has photo
Grhl1 bandit 12 24572287-24617391 bp (+) 24578027 Autosomal Recessive  decrease in body weight
growth/size
skin/coat/nails
5 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
6 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
7 UTSW Mc4r chubby 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive  adipose tissue
growth/size
8 UTSW
has photo
Rab27a concrete 9 73044854-73098501 bp (+) 73082409 Autosomal Recessive  immune system
MCMV susceptibility
pigmentation
skin/coat/nails
9 UTSW Trp53bp1 concur 2 121193281-121271407 bp (-) 121270319 Autosomal Recessive  decrease in IgD MFI in B cells
10 UTSW Tlr9 Cpg2 9 106222598-106226883 bp (+) 106226465 Autosomal Semidominant  immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
11 UTSW
has photo
Tmprss6 cubone 15 78439668-78468634 bp (-) 78446657 Autosomal Recessive  growth/size
skin/coat/nails
12 UTSW
has video
Slc26a4 cul-de-sac 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
13 UTSW Nek7 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant  NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
14 UTSW
has video
Scn8a dan 15 100870683-101045929 bp (+) 101035624 Autosomal Recessive  limbs/digits/tail phenotype
15 UTSW Rims4 demure 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive  decrease in body weight
growth/size
16 UTSW Sell dim_sum2 1 164061982-164084181 bp (+) 164065661 Autosomal Recessive  decrease in naive CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
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  pigmentation
skin/coat/nails
18 UTSW
has photo
Slc45a2 draco2 15 11000721-11029233 bp (+) 11000817 Autosomal Recessive  pigmentation
skin/coat/nails
19 UTSW Agtpbp1 drunk 13 59449537-59585227 bp (-) 59512323 Autosomal Recessive  behavior/neurological
nervous system
20 UTSW Slfn2 elektra2 11 83065112-83070678 bp (+) 83069564 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
21 UTSW Ern2 ernie 7 122169893-122186216 bp (-) 122171661 Autosomal Recessive  DSS: sensitive day 10
DSS: sensitive day 7
22 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
23 UTSW Slc15a4 feeble 5 127595664-127632897 bp (-) 127608770 Autosomal Recessive  decrease in response to injected CpG DNA
TLR signaling defect: type I IFN production by pDC
24 UTSW Nfkb1 Finlay 3 135584655-135691547 bp (-) 135595053 Autosomal Semidominant  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  TLR signaling defect: hyposensitivity to LPS
26 UTSW Camk2a frantic 18 60925618-60988152 bp (+) 60963928 Autosomal Recessive  Novelty: increase in total activity
27 UTSW Dock2 frazz 11 34226815-34783892 bp (-) 34248572 Autosomal Recessive  decrease in B cells
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
28 UTSW Dock2 frizz 11 34226815-34783892 bp (-) 34258184 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
29 UTSW
has photo
Hps3 gandalf 3 19995945-20035315 bp (-) 20012796 Autosomal Recessive  pigmentation
skin/coat/nails
30 UTSW Wnt7a gimpy 6 91363981-91411363 bp (-) 91365884 Autosomal Recessive  limbs/digits/tail phenotype
reproductive system
31 UTSW Trpv5 gingame 6 41652173-41680769 bp (-) 41670961 Autosomal Recessive  DSS: sensitive
DSS: sensitive day 7
immune system
32 UTSW Gck Grahamcracker 11 5900820-5950081 bp (-) 5902165 Autosomal Semidominant  30 min GTT hyperglycemic
33 UTSW Tlr4 Guardiola 4 66827584-66930284 bp (+) 66839303 Autosomal Semidominant  Nlrc4 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
34 UTSW Irf4 honey 13 30749226-30766927 bp (+) 30751751 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
35 UTSW Rag1 huckle 2 101638282-101649501 bp (-) 101641223 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
immune system
36 UTSW Itgb2 Joker 10 77530252-77565708 bp (+) 77549849 Autosomal Semidominant  decrease in NK cell response
hematopoietic system
immune system
37 UTSW Card11 king 5 140872999-141000596 bp (-) 140891080 Autosomal Recessive  decrease in CD8 response
decrease in NK cell response
decrease in NK cells
decrease in NK T cells
hematopoietic system
immune system
skin/coat/nails
38 UTSW Crygd L23 1 65061872-65063452 bp (-) 65063084 Autosomal Semidominant  vision/eye
39 UTSW Ccr7 lanzhou 11 99144196-99155077 bp (-) 99145277 Autosomal Recessive  decrease in macrophages
increase in CD4:CD8
increase in CD4+ T cells
40 APN Tnfaip3 lasvegas 10 19000910-19015657 bp (-) 19010758 Autosomal Recessive  immune system
41 UTSW Pappa2 Lilliputian2 1 158711727-158980490 bp (-) 158834918 Autosomal Semidominant  Circadian defect: decrease in final body weight
decrease in body weight
decrease in body weight- female
growth/size
42 UTSW Pappa2 lilliputian3 1 158711727-158980490 bp (-) 158782403 Autosomal Recessive  decrease in body weight
43 APN Ptprc lochy 1 138062861-138175708 bp (-) 138083790 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
hematopoietic system
immune system
44 UTSW Rhbdf2 Lostnf 11 116598165-116627019 bp (-) 116600161 Autosomal Semidominant  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
45 UTSW Rhbdf2 Lostnf2 11 116598165-116627019 bp (-) 116600191 Autosomal Semidominant  TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to R848
46 UTSW Tlr4 lps3 4 66827584-66930284 bp (+) 66841097 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
47 UTSW Tlr6 m2sd2 5 64953106-64960048 bp (-) 6540076 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
48 APN Cd4 maat 6 124864692-124888221 bp (-) 124866684 Autosomal Recessive  decrease in CD4+ T cells
immune system
49 UTSW
has video
Cars2 madcow 8 11514021-11550771 bp (-) 11526034 Autosomal Recessive  behavior/neurological
50 UTSW Tlr9 Meager 9 106222598-106226883 bp (+) 106224139 Autosomal Semidominant  immune system
TLR signaling defect: type I IFN production by pDC
51 UTSW
has photo
Gsdma3 Michelin 11 98626360-98638226 bp (+) 98637573 Autosomal Semidominant  skin/coat/nails
52 UTSW Tlr4 milquetoast 4 66827584-66930284 bp (+) 66839444 Autosomal Recessive  TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
53 UTSW Bloc1s5 minnie 13 38602709-38635109 bp (-) 38606734 Autosomal Recessive  hearing/vestibular/ear
pigmentation
skin/coat/nails
54 APN Zap70 murdock 1 36761798-36782818 bp (+) 36779704 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8 response
decrease in CD8+ T cells
immune system
55 UTSW Myd88 Myd88rev1 9 119335934-119341411 bp (-) 119337394 Unknown  normal phenotype
56 UTSW
has photo
Oca2 narwhal 7 56239760-56536517 bp (+) 56295498 Unknown  pigmentation
skin/coat/nails
57 UTSW Cd36 oblivious 5 17781690-17888959 bp (-) 17874966 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
vision/eye
58 UTSW Tyr pale_rider 7 87427405-87493411 bp (-) 87438023 Autosomal Recessive  pigmentation
59 UTSW
has photo
Hps3 pam_gray 3 19995945-20035315 bp (-) 20017173 Autosomal Recessive  DSS: sensitive day 7
pigmentation
skin/coat/nails
60 UTSW
has photo
Adamts20 pikachu 15 94270163-94465418 bp (-) 94345990 Autosomal Recessive  pigmentation
skin/coat/nails
61 UTSW Tbk1 Pioneer 10 121546455-121586794 bp (-) 121578690 Autosomal Dominant  impaired response to dsDNA- type I IFN production by macrophages
lethality-embryonic/perinatal
62 UTSW
has photo
Krt25 Plush 11 99315516-99322951 bp (-) 99322635 Autosomal Dominant  skin/coat/nails
63 UTSW Myd88 pococurante 9 119335934-119341411 bp (-) 119338114 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
64 UTSW Krt33a Polished2 11 100011195-100016212 bp (-) 100015850 Autosomal Dominant  skin/coat/nails
65 UTSW
has photo
Adamts20 poliwag 15 94270163-94465418 bp (-) 94394622 Autosomal Recessive  pigmentation
skin/coat/nails
66 UTSW
has photo
Ednrb pongo 14 103814625-103844173 bp (-) 103823274 Autosomal Recessive  digestive/alimentary
growth/size
life span-post-weaning/aging
skin/coat/nails
67 UTSW Kit Pretty2 5 75574916-75656722 bp (+) 75649550 Autosomal Dominant  hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
68 UTSW Ppp3cb Redwood 14 20499364-20546573 bp (-) 20509440 Autosomal Semidominant  increase in central memory CD8 T cells in CD8 T cells
69 UTSW Stat1 roccoco 1 52119440-52161865 bp (+) 52123209 Autosomal Recessive  decrease in naive CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
decreased CTL killing
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in CD44+ CD4 T cells
increase in CD44+ T cells
increase in effector memory CD4 T cells in CD4 T cells
increase in effector memory CD8 T cells in CD8 T cells
70 UTSW Nfkb1 Roomba 3 135584655-135691547 bp (-) 135612412 Autosomal Semidominant  decrease in total IgE level
increase in central memory CD8 T cells in CD8 T cells
T-dependent humoral response defect- decreased antibody response to rSFV
71 APN Tap1 rose 17 34187553-34197225 bp (+) 34194940 Autosomal Recessive  decrease in CD8+ T cells
hematopoietic system
immune system
72 UTSW Prkdc Screamer10 16 15637866-15842235 bp (+) 15768025 Autosomal Semidominant  T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
73 UTSW Prkdc screamer5 16 15637866-15842235 bp (+) 15687404 Autosomal Recessive  post-MCMV decrease in naive CD8 T cells in CD8 T cells
post-MCMV increase in CD44 MFI in CD4
post-MCMV increase in CD44 MFI in CD8
post-MCMV increase in CD44 MFI in T cells
post-MCMV increase in CD44+ CD4 T cells
post-MCMV increase in CD44+ CD8 T cells
post-MCMV increase in CD44+ T cells
74 UTSW Prkdc Screamer9 16 15637866-15842235 bp (+) 15734922 Autosomal Semidominant  decrease in CD8+ T cells in CD3+ T cells
75 UTSW Grm7 shaky 6 110645581-111567230 bp (+) 111495791 Autosomal Recessive  behavior/neurological
nervous system
76 UTSW Map3k8 Sluggish 18 4331327-4353015 bp (-) 4339608 Autosomal Semidominant  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  behavior/neurological
78 UTSW Atp11c spelling X 60223290-60592698 bp (-) 60290036 X-linked Recessive  decrease in B cells
hematopoietic system
homeostasis/metabolism
liver/biliary system
reproductive system
79 UTSW
has photo
Krt33a Spikey 11 100011195-100016212 bp (-) 100011939 Autosomal Dominant  skin/coat/nails
80 UTSW
has photo
Ptpn6 spin 6 124720707-124738714 bp (-) 124728559 Autosomal Recessive  hematopoietic system
immune system
81 UTSW Adamts20 splotch2 15 94270163-94465418 bp (-) 94335561 Autosomal Recessive  pigmentation
skin/coat/nails
82 UTSW Adgrf5 sweetie 17 43389466-43459557 bp (+) 43450983 Autosomal Recessive  30 min GTT hyperglycemic
83 UTSW Jak3 thistle 8 71676296-71690575 bp (+) 71685383 Autosomal Recessive  decrease in B cells
decrease in B:T cells
decrease in B1 cells
decrease in CD4+ T cells
decrease in CD44+ T cells
decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
decrease in IgD+ B cells
decrease in IgM+ B cells
decrease in naive CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
decrease in NK cells
decrease in T cells
decrease in total IgE level
immune system
increase in CD11c+ DCs
increase in CD4:CD8
increase in CD44 MFI in T cells
increase in effector memory CD8 T cells in CD8 T cells
increase in macrophages
increase in ratio of OVA-specific IgE over the total IgE
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
84 APN Hnrnpll thunder 17 80029487-80062268 bp (-) 80053571 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
immune system
85 UTSW Prkcb Tigris 7 122288751-122634402 bp (+) 122424977 Autosomal Semidominant  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
86 UTSW Zap70 trebia 1 36761798-36782818 bp (+) 36781025 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
hematopoietic competition - disadvantage
immune system
87 UTSW Tlr3 Ultraman 8 45395665-45410608 bp (-) 45402981 Autosomal Semidominant  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 Autosomal Recessive  decrease in CD8 response
decrease in NK cell response
decrease in NK cells
decrease in NK T cells
hematopoietic system
immune system
skin/coat/nails
89 UTSW Trp53bp1 verily 2 121193281-121271407 bp (-) 121211313 Autosomal Recessive  decrease in IgD MFI in B cells
90 UTSW Mapk3 wabasha 7 126759601-126765819 bp (+) 126763512 Autosomal Recessive  NLRP3 inflammasome: low response
91 UTSW Zap70 wanna3 1 36761798-36782818 bp (+) 36778218 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in CD44+ CD4 T cells
decrease in CD44+ CD8 T cells
decrease in CD44+ T cells
decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
decrease in naive CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
decrease in OVA-specific IgE
decrease in T cells
increase in B cells
increase in B:T cells
increase in CD4:CD8
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in central memory CD4 T cells in CD4 T cells
increase in central memory CD8 T cells in CD8 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 IgD+ B cells
increase in IgM+ B cells
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 Autosomal Recessive  DSS: sensitive
skin/coat/nails
vision/eye
93 UTSW Cd8a wenzhou 6 71373427-71379171 bp (+) 71373872 Autosomal Recessive  decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
decrease in effector memory CD8 T cells in CD8 T cells
decrease in naive CD8 T cells in CD8 T cells
increase in CD4:CD8
94 UTSW
has video
Atcay wobbley 10 81204508-81230833 bp (-) 81220573 Autosomal Recessive  behavior/neurological
nervous system
95 UTSW Ruvbl2 Worker 7 45421852-45438096 bp (-) 45431318 Autosomal Dominant  decrease in CD4+ T cells
T-dependent humoral response defect- decreased antibody response to rSFV
96 UTSW Med30 zeitgeist 15 52712445-52730431 bp (+) 52712639 Autosomal Recessive  cardiovascular system
decrease in NK cells
hematopoietic system
life span-post-weaning/aging
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