Phenotypic Mutations

16 mutations affecting 15 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 16 of 16] per page Full List Export
 
Source question?
Photo question?
Gene question?
Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Updated question?
Phenotypic Category question?

and
and
display


1 APN Ptprc lochy 1 138062861-138175708 bp (-) 138083790 Unknown 2018-07-31
Diantha La Vine
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
2 UTSW
has photo
Ednrb pongo 14 103814625-103844402 bp (-) 103823274 Autosomal Recessive (1;3) 2018-04-25
Anne Murray
digestive/alimentary
growth/size
life span-post-weaning/aging
pigmentation
skin/coat/nails
3 UTSW Dst phelps 1 33908225-34308661 bp (+) 34223795 Autosomal Semidominant (1;1) 2018-04-25
Anne Murray
behavior/neurological
growth/size
4 UTSW Stat1 poison 1 52119440-52161865 bp (+) 52151225 Unknown (2;0) 2018-03-29
Diantha La Vine
immune system
MCMV susceptibility
NK cell response - decreased
5 UTSW Prkdc screamer7 16 15637866-15842235 bp (+) 15654817 Autosomal Recessive (2;8)
 Autosomal Semidominant (1;6)
2018-03-28
Diantha La Vine
FACS CD44+ CD4 T cells - increased
immune system
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS pDCs - increased
6 UTSW Adamts20 splotch2 15 94270163-94465418 bp (-) 94335561 Unknown 2018-03-12
Diantha La Vine
pigmentation
skin/coat/nails
7 UTSW Map3k8 Sluggish 18 4331327-4353015 bp (-) 4339608 Unknown (1;0) 2017-09-11
Diantha La Vine
immune system
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
8 UTSW Dock2 frizz 11 34226815-34783892 bp (-) 34258184 Unknown (1;0) 2017-05-31
Katherine Timer
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
9 APN Nfkb2 xander 19 46304737-46312090 bp (+) Unknown 2017-03-28
Katherine Timer
FACS B cells - decreased
immune system
10 UTSW Tlr4 Lops 4 66827584-66930284 bp (+) 66833880 Autosomal Semidominant (2;10) 2016-12-09
Katherine Timer
FACS B220 MFI - decreased
immune system
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
11 UTSW Yipf6 Klein-zschocher X 98936316-98949017 bp (+) 98940782 Unknown (1;0) 2016-12-09
Anne Murray
DSS: sensitive day 7
immune system
12 APN Cd4 thoth 6 124864692-124888221 bp (-) 124873140 Unknown 2016-05-13
Peter Jurek
FACS CD4+ T cells - decreased
immune system
13 UTSW Bloc1s5 minnie 13 38592842-38635109 bp (-) 38606734 Unknown 2016-05-13
Stephen Lyon
hearing/vestibular/ear
pigmentation
skin/coat/nails
14 APN Cd4 maat 6 124864692-124888221 bp (-) 124866684 Unknown 2016-05-13
Peter Jurek
FACS CD4+ T cells - decreased
immune system
15 UTSW Mlph koala 1 90915085-90951142 bp (+) 90933301 Unknown 2016-05-13
Anne Murray
pigmentation
skin/coat/nails
16 UTSW Sell dim_sum 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1;4)
 Autosomal Recessive (4;33)
2016-05-13
Peter Jurek
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
[records 1 to 16 of 16]