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Human Disease and Mouse Model Detail
Human Disease

Term: Dystonia 1, Torsion, Autosomal Dominant; DYT1
OMIM ID: 128100

Synonyms Dystonia Musculorum Deformans 1; Early-Onset Torsion Dystonia; EOTD
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...
Tor1a TOR1A
  mousehuman...both mouse and human orthologous genes.
     
Transgenes and
other mutation types
Tg(CMV-TOR1A*)1Nush   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(CMV-TOR1A*)2Nush
Tg(Eno2-TOR1A*)13Shas

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Tor1atm1Yql/Tor1a+   involves: 129S2/SvPas * C57BL/6 J:104513
Models involving transgenes or other mutation types.2
Tg(CMV-TOR1A*)1Nush/0   involves: C3H * C57BL/6 J:98716
Tg(CMV-TOR1A*)2Nush/0   involves: C3H * C57BL/6 J:98716
Tg(Eno2-TOR1A*)13Shas/0   involves: C3H * C57BL/6J J:95447

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Models involving transgenes or other mutation types may also appear in other sections of the table.

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