Article

Impaired motor activity in a CRISPR SCA5 L253P knock-in mouse is associated with selective β-III-spectrin subcellular redistribution in the cerebellum

2026-03-17

Abstract excerpt

The spinocerebellar ataxia type 5 (SCA5) L253P mutation in β-III-spectrin causes high-affinity actin binding. Here we developed a CRISPR knock-in mouse to determine the i n vivo impact of L253P on Purkinje neurons and motor activity, and to establish a model for future testing of SCA5 therapeutics. Significantly, the knock-in mouse shows impaired motor activity on elevated beam assays at 20 weeks. In the cerebell...

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Literature Corpus work: 70de712a-91b5-50f9-99a3-7713feef33e2
DOI: 10.64898/2026.03.14.711824

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