Phenotypic Mutations

4 mutations affecting 4 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 4 of 4] 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?

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1 UTSW Ebf1 Oregano2 11 44617317-45008091 bp (+) 44990504 Autosomal Recessive (1;4)
 Autosomal Semidominant (2;10)
2018-07-20
Diantha La Vine
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS T cells - increased
immune system
2 UTSW Slc5a2 dregs 7 128265657-128272430 bp (+) 128267505 Autosomal Recessive (3;24)
 Autosomal Semidominant (2;8)
2018-04-11
Anne Murray
Body Weight - increased
Body Weight (Female) - increased
DSS: sensitive day 10
immune system
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: TNF production by macrophages
3 UTSW Itk goodnow 11 46325150-46389515 bp (-) 46338099 Autosomal Recessive (18;159) 2018-01-30
Anne Murray
FACS B cells - increased
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS IgD+ B cell percentage - increased
FACS IgM+ B cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
immune system
4 UTSW Pappa2 lilliputian3 1 158711727-158980490 bp (-) 158782403 Autosomal Recessive (2;10) 2017-09-15
Anne Murray
Body Weight - decreased
Body Weight (BP) - decreased
[records 1 to 4 of 4]