Article

<i>Atxn2</i> -CAG100-knock-in affects mouse lifespan and vestibulo-cerebellar function via neural disconnection

2018-05-30

Abstract excerpt

Unstable expansions in the Q22-polyglutamine domain of human ATXN2 mediate risks for motor neuron diseases such as ALS/FTLD or cause the autosomal dominant Spinocerebellar Ataxia type 2 (SCA2), but the pathogenesis is not understood and models are unavailable. We generated a novel knock-in mouse line with CAG100 expansion in Atxn2 , transmitted unstably. The mutant protein accumulated in neuronal cytosolic aggreg...

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Literature Corpus work: f0dadfa0-012e-56bb-abbf-bda13a275e0d
DOI: 10.1101/333443

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