Phenotypic Mutations

44 mutations affecting 42 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 44 of 44] per page Full List
 
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Chr question?
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Coordinate
Mode of Inheritance question?
Phenotypic Category question?
1 UTSW
has photo
Bicc1 artemis 10 70922832-71159700 bp (-) 71027954 Autosomal Recessive  homeostasis/metabolism
life span-post-weaning/aging
renal/urinary system
2 UTSW Prkcq celina2 2 11172108-11301222 bp (+) 11226986 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
3 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
4 UTSW Cd4 craw 6 124864692-124888221 bp (-) 124867746 Autosomal Recessive  decrease in CD4+ T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
5 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
6 UTSW Dock2 dew 11 34226815-34783892 bp (-) 34248636 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
T-dependent humoral response defect- decreased antibody response to rSFV
7 UTSW Slc6a6 durango 6 91684067-91759063 bp (+) 91723471 Autosomal Recessive  eye: decrease in BM to ILM thickness
vision/eye
8 UTSW Entpd5 eatsy 12 84373875-84409029 bp (-) 84382295 Autosomal Recessive  decrease in IgD MFI in B cells
decrease in phagocytosis in PECs
DSS: sensitive
DSS: sensitive day 10
DSS: sensitive day 7
growth/size
increase in 125-03 response
9 UTSW Atp11c emptyhive X 60223290-60592698 bp (-) 60269987 X-linked Recessive  decrease in B cells
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
reproductive system
10 UTSW Tnfsf13b Frozen 8 10006843-10035441 bp (+) 10031661 Autosomal Semidominant  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in CD11c+ DCs
increase in CD8+ T cells
increase in macrophages
increase in neutrophils
increase in T 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
11 UTSW Lepr giant 4 101717404-101815352 bp (+) 101765152 Autosomal Recessive  30 min GTT hyperglycemic
decreased NK killing
increase in body weight
increase in OVA-specific IgE
increase in total IgE level
12 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
13 UTSW Ptprc guotie 1 138062861-138175708 bp (-) 138068401 Autosomal Recessive  decrease in B cells
decrease in B:T cells
decrease in B1a cells in B1 cells
decrease in CD4+ T cells
decrease in CD44 MFI in CD8
decrease in CD44 MFI in 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 IgM+ B cells
decrease in naive CD8 T cells in CD8 T cells
decrease in T cells
immune system
increase in B1 cells
increase in CD4:CD8
increase in CD4+ T cells in CD3+ T cells
increase in neutrophils
increase in pDCs in CD11c+ cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
14 UTSW Fnip1 hamel 11 54438199-54518235 bp (+) 54480685 Autosomal Recessive  hematopoietic competition - disadvantage
hematopoietic system
homeostasis/metabolism
muscle
15 UTSW Cd14 heedless 18 36725067-36726654 bp (-) 36726171 Autosomal Recessive  immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
16 UTSW Naip5 inwood3 13 100211739-100246323 bp (-) 100221903 Autosomal Recessive  Nlrc4 inflammasome: low response
17 UTSW Tg ito2 15 66670753-66850721 bp (+) 66671396 Autosomal Recessive  decrease in body weight
decrease in body weight- female
18 UTSW Tlr4 Lps4 4 66827584-66930284 bp (+) 66841142 Autosomal Semidominant  immune system
TLR signaling defect: TNF production by macrophages
19 UTSW Map3k14 lucky 11 103219762-103267472 bp (-) 103249558 Autosomal Recessive  decrease in B cells
hematopoietic system
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
20 UTSW Rorc macadamias2 3 94372831-94397839 bp (+) 94387193 Autosomal Recessive  decrease in B2 cells
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 B:T cells
increase in B1a cells
increase in B1b cells
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
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 IgD MFI in B cells
increase in macrophages
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
21 UTSW Card11 May 5 140872999-141000596 bp (-) 140876495 Autosomal Dominant  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
22 UTSW Msh6 medea 17 87975050-87990883 bp (+) 87980223 Autosomal Recessive  decrease in total IgE level
increase in ratio of OVA-specific IgE over the total IgE
23 UTSW
has photo
Hr mister_clean 14 70552212-70573548 bp (+) 70560065 Autosomal Recessive  skin/coat/nails
24 UTSW Inpp5d Orange 1 87620312-87720507 bp (+) 87697546 Autosomal Semidominant  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
25 UTSW Ticam1 Pangu 17 56269319-56276786 bp (-) 56276693 Autosomal Semidominant  TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
26 UTSW Oca2 quicksilver 7 56239760-56536517 bp (+) 56324661 Autosomal Recessive  pigmentation
skin/coat/nails
27 UTSW Tlr7 rsq1 X 167304929-167330558 bp (-) 167308286 X-linked Recessive  immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
28 UTSW Prkdc screamer6 16 15637866-15842235 bp (+) 15759605 Autosomal Recessive  increase in effector memory CD4 T cells in CD4 T cells
T-dependent humoral response defect- decreased antibody response to rSFV
29 UTSW Ciita sisal 16 10488178-10527564 bp (+) 10513288 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in naive CD4 T cells in CD4 T cells
increase in CD44 MFI in CD4
increase in CD8+ T cells in CD3+ T cells
post-MCMV decrease in CD4:CD8
post-MCMV increase in CD8+ T cells in CD3+ T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
30 UTSW Slx4 slim 16 3979105-4003770 bp (-) 3990910 Autosomal Recessive  Circadian defect: decrease in final body weight
Circadian rhythm
decrease in body weight
decrease in body weight- female
growth/size
31 UTSW
has photo
Hps5 smoky 7 46760466-46796064 bp (-) 46769351 Autosomal Recessive  pigmentation
skin/coat/nails
32 UTSW Dock8 snowdrop 19 24999529-25202432 bp (+) 25184941 Autosomal Recessive  decrease in T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
33 UTSW Impdh1 steve 6 29200434-29216364 bp (-) 29204632 Autosomal Recessive  eye: decrease in BM to ELM thickness
eye: decrease in BM to ILM thickness
eye: decrease in ONL thickness
vision/eye
34 UTSW Gk5 tangyuan 9 96119362-96184608 bp (+) 96150797 Autosomal Recessive  skin/coat/nails
35 UTSW
has photo
Kbtbd2 teeny 6 56777524-56797813 bp (-) 56780389 Autosomal Recessive  30 min GTT hyperglycemic
decrease in body weight
growth/size
liver/biliary system
36 UTSW
has photo
Tgm3 tortellini 2 130012349-130050399 bp (+) 130024585 Autosomal Recessive  immune system
RVFV susceptibility
skin/coat/nails
37 UTSW
has video
Myo6 torticollis 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
nervous system
38 UTSW
has video
Myo15 typhoon 11 60469339-60528369 bp (+) 60487425 Autosomal Recessive  behavior/neurological
39 UTSW Clock uhr 5 76212177-76304548 bp (-) 76229554 Autosomal Recessive  increase in body weight
40 UTSW Cd22 well 7 30865402-30880342 bp (-) 30877787 Autosomal Recessive  decrease in B cells
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
41 UTSW Lepr Well-upholstered 4 101717404-101815352 bp (+) 101772959 Autosomal Semidominant  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
reproductive system
42 APN Muc2 Winnie 7 141690340-141754693 bp (+) 141699460 Autosomal Semidominant  DSS: sensitive
DSS: sensitive day 7
immune system
43 UTSW Hr yuanxiao 14 70552212-70573548 bp (+) 70571448 Autosomal Recessive  skin/coat/nails
44 UTSW
has photo
Tmprss6 zorro 15 78439668-78468634 bp (-) 78464552 Autosomal Recessive  embryogenesis
growth/size
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
[records 1 to 44 of 44]