| Literature DB >> 33022226 |
Lien Nguyen1, Lauren A Laboissonniere1, Shu Guo1, Federica Pilotto2, Olivier Scheidegger3, Angelina Oestmann3, Jennetta W Hammond4, Herman Li4, Anu Hyysalo5, Roosa Peltola5, Amrutha Pattamatta1, Tao Zu1, Merja H Voutilainen5, Harris A Gelbard4, Smita Saxena3, Laura P W Ranum6.
Abstract
Mordes et al. (2020) did not detect the survival or motor phenotypes in C9orf72 BAC transgenic mice originally described by Liu et al. (2016). We discuss methodological differences between the Mordes and Liu studies, several additional studies in which survival and motor phenotypes were found, and possible environmental and genetic effects. First, Nguyen et al. (2020) showed robust ALS/FTD phenotypes in C9-BAC versus non-transgenic (NT) mice and that α-GA1 treatment improved survival, behavior, and neurodegeneration. The groups of Gelbard and Saxena also show decreased survival of C9-BAC versus NT mice and neuropathological and behavioral deficits similar to those shown by Liu et al. (2016). Although FVB/N mice can have seizures, increases in seizure severity and death of C9 and NT animals, which may mask C9 disease phenotypes, have been observed in recent C9-500 FVB/NJ-bred cohorts. In summary, we provide an update on phenotypes seen in FVB C9-BAC mice and additional details to successfully use this model. This Matters Arising Response paper addresses the Mordes et al. (2020) Matters Arising paper, published concurrently in Neuron.Entities:
Keywords: ALS/FTD; C9orf72; FVB strain background; RAN proteins; microsatellite repeat; motor neuron disease; repeat associated non-AUG (RAN) translation; repeat expansion mutation; seizures; transgenic mouse models
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Year: 2020 PMID: 33022226 PMCID: PMC8281452 DOI: 10.1016/j.neuron.2020.09.009
Source DB: PubMed Journal: Neuron ISSN: 0896-6273 Impact factor: 17.173