Abstract
We describe a protocol for the rapid and sensitive quantification of disease severity in mouse models of cerebella ataxia. It is derived from previously published phenotype assessments in several disease models, including spinocerebellar ataxias, Huntington s disease and spinobulbar muscular atrophy. Measures include hind limb clasping, ledge test, gait and kyphosis. Each measure is recorded on a scale of 0-3, with a combined total of 0-12 for all four measures. The results effectively discriminate between affected and non-affected individuals, while also quantifying the temporal progression of neurodegenerative disease phenotypes. Measures may be analyzed individually or combined into a composite phenotype score for greater statistical power. The ideal combination of the four described measures will depend upon the disorder in question. We present an example of the protocol used to assess disease severity in a transgenic mouse model of spinocerebellar ataxia type 7 (SCA7).Albert R. La Spada and Gwenn A. Garden contributed to this manuscript equally.
Highlights
We describe a protocol for the rapid and sensitive quantification of disease severity in mouse models of cerebella ataxia
We present an example of the protocol used to assess disease severity in a transgenic mouse model of spinocerebellar ataxia type 7 (SCA7)
The ledge test is a direct measure of coordination, which is impaired in cerebellar ataxias and many other neurodegenerative disorders
Summary
A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia. Garden2,* 1Department of Biochemistry, University of Washington 2Department of Neurology, University of Washington 3Division of Genetics, Departments of Pediatrics and Cellular and Molecular Medicine, and the Institute for Genomic Medicine, University of California, San Diego - Rady Children’s Hospital *These authors contributed
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