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Article

Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus.

Human molecular genetics - 22 Mar 2000

Lorenzetti D, Watase K, Xu B, Matzuk M M, Orr H T, Zoghbi H Y

Abstract excerpt

To elucidate the pathophysiology of spinocerebellar ataxia type 1 (SCA1) and to evaluate repeat length instability in the context of the mouse Sca1 gene, we generated knock-in mice by inserting an expanded tract of 78 CAG repeats into the mouse Sca1 locus. Mice heterozygous for the CAG expansion show intergenerational repeat instability (+2 to -6) at a much higher frequency in maternal transmission than in...

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Identifiers

PMID: 10749985
DOI: 10.1093/hmg/9.5.779

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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