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Human Disease and Mouse Model Detail
Human Disease

Term: Vitamin E, Familial Isolated Deficiency Of; VED
OMIM ID: 277460

Synonyms Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency; AVED; Friedreich-Like Ataxia
Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
Ttpa TTPA
  mousehuman...both mouse and human orthologous genes.
     

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Ttpatm1Far/Ttpatm1Far   involves: 129S4/SvJae * C57BL/6 J:66419
Ttpatm1Far/Ttpa+   involves: 129S4/SvJae * C57BL/6 J:66419
Ttpatm1Hsz/Ttpatm1Hsz   involves: 129S7/SvEvBrd * C57BL/6J J:67046

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory