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
 
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1 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15654817 Autosomal Recessive (2;8)
 Autosomal Semidominant (1;6)
good candidate 2019-07-17
Diantha La Vine
 FACS CD44+ CD4 T cells - increased
 post-MCMV FACS CD8+ T cells - decreased
 post-MCMV FACS pDCs - increased
A ⇒ G splice site 4 bp probably null
2 APN Ptprc 0.265 1 138062861-138175708 bp (-) 138083790 Unknown no linkage results 2019-06-06
Diantha La Vine
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
 immune system
A ⇒ T splice site probably benign
3 APN Nfkb2 0.437 19 46304737-46312090 bp (+) Unknown no linkage results 2019-05-26
Diantha La Vine
 FACS B cells - decreased
 immune system
splice acceptor site 4 bp
4 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34258184 Unknown (1;0) no linkage results 2019-05-21
Diantha La Vine
 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
A ⇒ T splice site 11 bp probably benign
5 UTSW Adamts20 0.233 15 94270163-94465418 bp (-) 94335561 Unknown no linkage results 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
A ⇒ T intron 8 bp probably benign
6 UTSW
has photo
Ednrb 0.366 14 103814625-103844402 bp (-) 103823274 Autosomal Recessive (1;3) failed initial filter 2018-04-25
Anne Murray
 digestive/alimentary
 growth/size
 life span-post-weaning/aging
 pigmentation
 skin/coat/nails
A ⇒ T splice site 15 bp probably null
7 UTSW Dst 0.364 1 33908225-34308661 bp (+) 34223795 Autosomal Semidominant (1;1) failed initial filter 2018-04-25
Anne Murray
 behavior/neurological
 FACS B1a cells in B1 cells - increased
 FACS CD11c+ DCs - increased
 growth/size
T ⇒ A splice site 9 bp probably null
8 UTSW Stat1 0.000 1 52119440-52161865 bp (+) 52151225 Unknown (2;0) no linkage results 2018-03-29
Diantha La Vine
 immune system
 MCMV susceptibility
 NK cell response - decreased
T ⇒ A splice site 13 bp probably benign
9 UTSW Map3k8 0.000 18 4331327-4353015 bp (-) 4339608 Unknown (1;0) no linkage results 2017-09-11
Diantha La Vine
 immune system
 TLR signaling defect: TNF production by macrophages
 TLR signaling defect: type I IFN production by macrophages
A ⇒ T splice site 5 bp probably benign
10 UTSW Tlr4 0.000 4 66827584-66930284 bp (+) 66833880 Autosomal Semidominant (3;15) excellent candidate 2016-12-09
Katherine Timer
 FACS B220 MFI - decreased
 NLRP3 inflammasome: low response
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
T ⇒ A splice site 14 bp probably null
11 UTSW Yipf6 X 98936316-98949017 bp (+) 98940782 Unknown (1;0) no linkage results 2016-12-09
Anne Murray
 DSS: sensitive day 7
 immune system
T ⇒ A splice site 5 bp probably benign
12 APN Cd4 0.000 6 124864692-124888221 bp (-) 124873140 Unknown no linkage results 2016-05-13
Peter Jurek
 FACS CD4+ T cells - decreased
 immune system
G ⇒ T splice site 10 bp probably benign
13 UTSW Bloc1s5 0.000 13 38592842-38635109 bp (-) 38606734 Unknown no linkage results 2016-05-13
Stephen Lyon
 hearing/vestibular/ear
 pigmentation
 skin/coat/nails
A ⇒ T intron 7 bp probably benign
14 APN Cd4 0.000 6 124864692-124888221 bp (-) 124866684 Unknown no linkage results 2016-05-13
Peter Jurek
 FACS CD4+ T cells - decreased
 immune system
A ⇒ T unclassified 13 bp probably benign
15 UTSW Mlph 0.173 1 90915085-90951142 bp (+) 90933301 Unknown no linkage results 2016-05-13
Anne Murray
 pigmentation
 skin/coat/nails
A ⇒ G unclassified 17 bp probably benign
16 UTSW Sell 0.000 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1;4)
 Autosomal Recessive (7;45)
excellent candidate 2016-05-13
Peter Jurek
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 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
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ A unclassified 9 bp probably null
[records 1 to 16 of 16]