Phenotypic Mutations

45 mutations affecting 43 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 45 of 45] per page Full List Export
 
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1 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
2 UTSW
has photo
Bicc1 artemis 10 70922832-71159700 bp (-) 71027954 Unknown homeostasis/metabolism
life span-post-weaning/aging
renal/urinary system
3 UTSW Prkcq celina2 2 11172108-11301222 bp (+) 11226986 Autosomal Recessive (1;4) T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
4 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
5 UTSW Cd4 craw 6 124864692-124888221 bp (-) 124867746 Unknown (3;0) CD4+ 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
6 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
7 UTSW Dock2 dew 11 34226815-34783892 bp (-) 34248636 Unknown (1;0) CD4+ T cells - decreased
CD8+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
8 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
9 UTSW Entpd5 eatsy 12 84373875-84409029 bp (-) 84382295 Autosomal Recessive (9;41)
Autosomal Semidominant (1;4)
125-03 Response - increased
DSS: sensitive
DSS: sensitive day 10
DSS: sensitive day 7
growth/size
IgD MFI in B cells - decreased
phagocytosis in PECs - decreased
10 UTSW Atp11c emptyhive X 60223290-60592698 bp (-) 60269987 Unknown B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
reproductive system
11 UTSW Tnfsf13b Frozen 8 10006843-10035441 bp (+) 10031661 Autosomal Recessive (6;46)
Autosomal Semidominant (9;97)
B cells - decreased
CD11c+ DCs - increased
CD8+ T cells - increased
IgD+ B cells - decreased
IgM+ B cells - decreased
macrophages - increased
neutrophils - increased
T cells - increased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
12 UTSW Lepr giant 4 101717404-101815352 bp (+) 101765152 Autosomal Recessive (9;61) 30 min GTT hyperglycemic
Body Weight - increased
NK killing - decreased
OVA-specific IgE - increased
total IgE level - increased
13 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
14 UTSW Ptprc guotie 1 138062861-138175708 bp (-) 138068401 Autosomal Recessive (49;486)
Autosomal Semidominant (7;48)
B cells - decreased
B:T cells - decreased
B1 cells - increased
B1a cells in B1 cells - decreased
CD4:CD8 - increased
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - increased
CD44 MFI in CD8 - decreased
CD44 MFI in T cells - decreased
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
IgM+ B cells - decreased
immune system
naive CD8 T cells in CD8 T cells - decreased
neutrophils - increased
pDCs in CD11c+ cells - 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
15 UTSW Fnip1 hamel 11 54438199-54518235 bp (+) 54480685 Unknown hematopoietic competition - disadvantage
hematopoietic system
homeostasis/metabolism
muscle
16 UTSW Cd14 heedless 18 36725067-36726654 bp (-) 36726171 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
17 UTSW Naip5 inwood3 13 100211739-100246323 bp (-) 100221903 Autosomal Recessive (2;9) Nlrc4 inflammasome: low response
18 UTSW Tg ito2 15 66670753-66850721 bp (+) 66671396 Unknown (1;0)
Autosomal Recessive (9;55)

Autosomal Semidominant (1;5)
Body Weight - decreased
Body Weight (Female) - decreased
19 UTSW Tlr4 Lps4 4 66827584-66930284 bp (+) 66841142 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
20 UTSW Map3k14 lucky 11 103219762-103267472 bp (-) 103249558 Unknown (1;0) B cells - decreased
hematopoietic system
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
21 UTSW Rorc macadamias2 3 94372831-94397839 bp (+) 94387193 Autosomal Recessive (17;113) B:T cells - increased
B1a cells - increased
B1b cells - increased
B2 cells - decreased
CD4:CD8 - decreased
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
effector memory CD4 T cells in CD4 T cells - increased
effector memory CD8 T cells in CD8 T cells - increased
IgD MFI in B cells - increased
macrophages - increased
naive CD8 T cells in CD8 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
22 UTSW Card11 May 5 140872999-141000596 bp (-) 140876495 Unknown T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
23 UTSW Msh6 medea 17 87975050-87990883 bp (+) 87980223 Autosomal Recessive (2;24) ratio of OVA-specific IgE over the total IgE - increased
total IgE level - decreased
24 UTSW
has photo
Hr mister_clean 14 70552212-70573548 bp (+) 70560065 Unknown skin/coat/nails
25 UTSW Inpp5d Orange 1 87620312-87720507 bp (+) 87697546 Autosomal Dominant (13;25)
Autosomal Recessive (5;8)

Autosomal Semidominant (15;48)
B cells - decreased
IgD+ B cells - decreased
IgM+ B cells - decreased
26 UTSW Ticam1 Pangu 17 56269319-56276786 bp (-) 56276693 Unknown (2;0) TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
27 UTSW Oca2 quicksilver 7 56239760-56536517 bp (+) 56324661 Unknown pigmentation
skin/coat/nails
28 UTSW Tlr7 rsq1 X 167304929-167330558 bp (-) 167308286 Unknown (1;0) immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
29 UTSW Prkdc screamer6 16 15637866-15842235 bp (+) 15759605 Autosomal Recessive (2;11) effector memory CD4 T cells in CD4 T cells - increased
T-dependent humoral response defect- decreased antibody response to rSFV
30 UTSW Ciita sisal 16 10488178-10527564 bp (+) 10513288 Autosomal Recessive (9;49)
Autosomal Semidominant (1;4)
CD4+ T cells - decreased
CD4+ T cells in CD3+ T cells - decreased
CD44 MFI in CD4 - increased
CD8+ T cells in CD3+ T cells - increased
naive CD4 T cells in CD4 T cells - decreased
post-MCMV CD4:CD8 - decreased
post-MCMV CD8+ T cells in CD3+ T cells - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
31 UTSW Slx4 slim 16 3979105-4003770 bp (-) 3990910 Autosomal Recessive (5;26) Body Weight - decreased
Body Weight (Female) - decreased
Circadian defect: decrease in final body weight
Circadian rhythm
growth/size
32 UTSW
has photo
Hps5 smoky 7 46760466-46796064 bp (-) 46769351 Autosomal Recessive (1;2) pigmentation
skin/coat/nails
33 UTSW Dock8 snowdrop 19 24999529-25202432 bp (+) 25184941 Autosomal Recessive (8;34)
Autosomal Semidominant (1;4)
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
34 UTSW Impdh1 steve 6 29200434-29216364 bp (-) 29204632 Autosomal Recessive (6;38)
Autosomal Semidominant (1;4)
eye: decrease in BM to ELM thickness
eye: decrease in BM to ILM thickness
eye: decrease in ONL thickness
vision/eye
35 UTSW Gk5 tangyuan 9 96119362-96184608 bp (+) 96150797 Autosomal Dominant (1;5)
Autosomal Recessive (4;18)
B1b cells - decreased
skin/coat/nails
36 UTSW
has photo
Kbtbd2 teeny 6 56777524-56797813 bp (-) 56780389 Unknown (1;0)
Autosomal Recessive (5;34)

Autosomal Semidominant (1;7)
30 min GTT hyperglycemic
Body Weight - decreased
growth/size
liver/biliary system
37 UTSW
has photo
Tgm3 tortellini 2 130012349-130050399 bp (+) 130024585 Unknown (1;0) immune system
RVFV susceptibility
skin/coat/nails
38 UTSW
has video
Myo6 torticollis 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive (4;15) behavior/neurological
hearing/vestibular/ear
nervous system
39 UTSW
has video
Myo15 typhoon 11 60469339-60528369 bp (+) 60487425 Autosomal Dominant (1;7)
Autosomal Recessive (1;5)
behavior/neurological
40 UTSW Clock uhr 5 76212177-76304548 bp (-) 76229554 Autosomal Recessive (2;7)
Autosomal Semidominant (1;6)
Body Weight - increased
41 UTSW Cd22 well 7 30865402-30880342 bp (-) 30877787 Unknown B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
42 UTSW Lepr Well-upholstered 4 101717404-101815352 bp (+) 101772959 Unknown adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
43 APN Muc2 Winnie 7 141690340-141754693 bp (+) 141699460 Unknown DSS: sensitive
DSS: sensitive day 7
immune system
44 UTSW Hr yuanxiao 14 70552212-70573548 bp (+) 70571448 Autosomal Recessive (1;4) skin/coat/nails
45 UTSW
has photo
Tmprss6 zorro 15 78439668-78468634 bp (-) 78464552 Unknown embryogenesis
growth/size
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
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