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Human Disease and Mouse Model Detail
Human Disease

Term: Spinocerebellar Ataxia 7; SCA7
OMIM ID: 164500

Synonyms ADCA, Type II; Autosomal Dominant Cerebellar Ataxia, Type II; Olivopontocerebellar Atrophy III; OPCA3; OPCA III; OPCA with Macular Degeneration and External Ophthalmoplegia; OPCA with Retinal Degeneration
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...
Atxn7 ATXN7
  mousehuman...both mouse and human orthologous genes.
     
Kat2a KAT2A
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Transgenes and
other mutation types
Tg(SCA7)c92QAls   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Atxn7tm1Hzo/Atxn7tm1Hzo
Kat2atm3.1Roth/Kat2a+
  involves: 129 * 129S7/SvEvBrd J:179021
Atxn7tm1Hzo/Atxn7+   involves: 129S7/SvEvBrd * C57BL/6J J:107098
Atxn7tm1Hzo/Atxn7+   involves: 129S7/SvEvBrd * C57BL/6 J:82072
Atxn7tm1Hzo/Atxn7+   involves: 129S7/SvEvBrd J:179021
Atxn7tm1Hzo/Atxn7tm1Hzo   involves: 129S7/SvEvBrd J:179021
Models involving transgenes or other mutation types.2
Tg(SCA7)c92QAls/0   involves: C3H/HeJ * C57BL/6 J:71971, J:77530

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