Article

Generation of <i> C9orf72 <sup>h370</sup> </i> mice, an intron 1 humanised <i>C9orf72</i> repeat-expansion knock-in model

2025-02-06

Abstract excerpt

An autosomal dominant GGGGCC repeat expansion in intron 1 of the C9orf72 gene is the most common genetic cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here, we set out to engineer a gene targeted mouse model harbouring a pathogenic length humanised C9orf72 repeat expansion allele, in order to model pathological mechanisms in a physiological context. In human disease, pathog...

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Literature Corpus work: 248d7d8b-edda-59d5-a260-5f90d55c0645
DOI: 10.1101/2025.02.06.636691

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