Human Disease and Mouse Model Detail

Human Disease

Term: Spinocerebellar Ataxia 1; SCA1
OMIM ID: 164400

Synonyms

Cerebelloparenchymal Disorder I; CPD1; Menzel Type OPCA; Olivopontocerebellar Atrophy I; OPCA I; OPCA1; Olivopontocerebellar Atrophy IV; OPCA IV; OPCA4; Schut-Haymaker Type Opca; Spinocerebellar Atrophy I

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...

Atxn1

ATXN1

...both mouse and human orthologous genes.

Transgenes and
other mutation types

Tg(Pcp2-tTA)3Horr		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(tetO-ATXN1*82Q)#Horr

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Atxn1^tm1Hzo/Atxn1⁺		involves: 129S7/SvEvBrd * C57BL/6	J:77225
Models involving transgenes or other mutation types.²
Tg(Pcp2-tTA)3Horr/0 Tg(tetO-ATXN182Q)#Horr/Tg(tetO-ATXN182Q)#Horr		involves: FVB/N	J:95453

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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