Phenotypic Mutations

30 mutations affecting 30 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 30 of 30] per page Full List
 
Source question?
Photo question?
Gene question?
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Phenotypic Category question?
1 UTSW Edar achtung2 10 58600789-58675654 bp (-) 58603163 Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
skin/coat/nails
2 UTSW
has photo
Ap3b1 bullet_gray 13 94358960-94566316 bp (+) 94451087 Autosomal Recessive  immune system
MCMV susceptibility
pigmentation
skin/coat/nails
3 UTSW
has photo
Ap3d1 christian 10 80706978-80742211 bp (-) 80730042 Unknown  pigmentation
skin/coat/nails
4 UTSW Tlr9 Cpg7 9 106222598-106226883 bp (+) 106225349 Autosomal Semidominant  DSS: sensitive
immune system
TLR signaling defect: TNF production by macrophages
5 UTSW Cdh23 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive  hearing/vestibular/ear
6 UTSW
has photohas video
Grm1 donald 10 10686059-11082356 bp (-) 10741508 Autosomal Recessive  behavior/neurological
growth/size
life span-post-weaning/aging
nervous system
7 UTSW
has photo
Scd1 flake 19 44394451-44407709 bp (-) 44400330 Autosomal Recessive  endocrine/exocrine gland
immune system
skin/coat/nails
8 UTSW Naip5 inwood2 13 100211739-100246323 bp (-) 100223014 Autosomal Recessive  Nlrc4 inflammasome: low response
9 UTSW Unc13d jinx 11 116062095-116077961 bp (-) 116073423 Autosomal Recessive  decrease in NK cell response
DSS: sensitive day 7
hematopoietic system
immune system
MCMV susceptibility
10 UTSW Trp53bp1 lentil2 2 121193281-121271407 bp (-) 121207887 Autosomal Recessive  decrease in IgD MFI in B cells
decrease in IgD+ B cells
decrease in naive CD8 T cells in CD8 T cells
increase in CD44 MFI in CD8
increase in central memory CD8 T cells in CD8 T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
11 UTSW Rag1 maladaptive 2 101638282-101649501 bp (-) 101645647 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
hematopoietic system
immune system
RVFV susceptibility
12 UTSW
has photo
Lepr odd 4 101717404-101815352 bp (+) 101728075 Unknown  adipose tissue
behavior/neurological
growth/size
homeostasis/metabolism
13 UTSW Lyn Pacific 4 3678115-3813122 bp (+) 3745330 Autosomal Semidominant  decrease in CD4+ T cells
decrease in CD8+ T cells
decrease in NK cells
decrease in T cells
increase in B1 cells
increase in CD11c+ DCs
increase in macrophages
14 UTSW
has photo
Adamts20 panda 15 94270163-94465418 bp (-) 94326699 Autosomal Recessive  pigmentation
skin/coat/nails
15 UTSW Tnf Panr1 17 35199381-35202007 bp (-) 35200204 Autosomal Dominant  immune system
TLR signaling defect: TNF production by macrophages
16 UTSW
has photo
Fgf5 porcupine 5 98254184-98277030 bp (+) 98254746 Autosomal Recessive  skin/coat/nails
17 UTSW Rac2 potter 15 78559169-78572783 bp (-) 78570743 Autosomal Recessive  decrease in B cells
decrease in B1a cells in B1 cells
decrease in IgM+ B cells
increase in B1b cells in B1 cells
increase in neutrophils
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
18 UTSW Smtn runtish 11 3517523-3540612 bp (-) 3531326 Autosomal Recessive  decrease in body weight
growth/size
19 UTSW Muc2 Schlendrian 7 141690340-141754693 bp (+) 141695682 Autosomal Semidominant  DSS: sensitive
immune system
20 UTSW Prkdc screamer 16 15637866-15842235 bp (+) 15831282 Autosomal Recessive  decrease in B cells
decrease in B1a cells
decrease in B2 cells
decrease in B220 MFI in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
decrease in IgD MFI in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
decrease in T cells
increase in B1 cells
increase in CD4:CD8
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in CD44+ CD4 T cells
increase in macrophages
increase in neutrophils
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
21 UTSW Myo5a silver_decerebrate 9 75071015-75223688 bp (+) 75164195 Autosomal Recessive  behavior/neurological
lethality-postnatal
life span-post-weaning/aging
nervous system
pigmentation
skin/coat/nails
22 UTSW Gimap5 sphinx 6 48746197-48754210 bp (+) 48752609 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8 response
decrease in CD8+ T cells
decrease in NK cell response
decrease in NK cells
decrease in NK T cells
hematopoietic system
immune system
inflammatory bowel disease phenotype
lethality-postnatal
life span-post-weaning/aging
liver/biliary system
MCMV susceptibility
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
23 UTSW Bcl3 sunrise 7 19808462-19822770 bp (-) 19811580 Autosomal Recessive  decrease in IgD+ B cells
decrease in total IgE level
increase in B1 cells
increase in CD44 MFI in CD8
increase in CD44 MFI in 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 rSFV
24 APN Cd4 thoth 6 124864692-124888221 bp (-) 124873140 Autosomal Recessive  decrease in CD4+ T cells
immune system
25 UTSW
has photo
Atp7a Tigrou X 106027276-106124926 bp (+) 106088407 X-linked Dominant  growth/size
lethality-embryonic/perinatal
lethality-postnatal
pigmentation
skin/coat/nails
26 UTSW
has video
Pcdh15 tortilla 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive  behavior/neurological
27 UTSW Scn8a Tremord 15 100870683-101045929 bp (+) 101013504 Autosomal Semidominant  behavior/neurological
nervous system
28 UTSW Cd3e tumormouse 9 44998743-45009590 bp (-) 45006150 Autosomal Recessive  hematopoietic system
immune system
29 UTSW Card11 unmodulated2 5 140872999-141000596 bp (-) 140883782 Autosomal Recessive  decrease in B:T cells
decrease in B1a cells in B1 cells
decrease in B220 MFI in B cells
decrease in effector memory CD8 T cells in CD8 T cells
decrease in IgM+ B cells
increase in B1b cells in B1 cells
increase in CD4+ T cells
increase in CD8+ T cells
increase in IgM MFI in B cells
increase in NK T cells
increase 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
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
30 UTSW
has photo
Slc45a2 zuckerkuss 15 11000721-11029233 bp (+) 11025935 Autosomal Recessive  pigmentation
skin/coat/nails
[records 1 to 30 of 30]