Article

A Novel Early Onset Spinocerebellar Ataxia 13 BAC Mouse Model with Cerebellar Hypoplasia, Tremor, and Ataxic Gait

2024-10-30

Abstract excerpt

Spinocerebellar ataxia 13 (SCA13) is an autosomal dominant neurological disorder caused by mutations in KCNC3 . Our previous studies revealed that KCNC3 mutation R423H results in an early-onset form of SCA13. Previous biological models of SCA13 include zebrafish and Drosophila but no mammalian systems. More recently, mouse models with KCNC3 mutations presented behavioral abnormalities but without obvious pathol...

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Literature Corpus work: 9f79df67-6523-59e2-a6bd-14ce0827dfea
DOI: 10.1101/2024.10.28.620097

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