Article
A novel, rapidly progressive ataxia due to a spontaneous Myo5a mutation in mice impairs transport proteins and alters mitochondria.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 15 Mar 2025
Telenson Alexander M, Hsieh Ryan R, Cowen Gabrielle J, Sode Eoin P, Kwon Jason M, Vo Andy H, Hadhazy Michele, Page Patrick G, Rao Nalini R, Pesce Lorenzo, Demonbreun Alexis R, Puckelwartz Megan J, Savas Jeffrey N, McNally Elizabeth M
Abstract excerpt
Spontaneous mouse mutants have helped define genetic contributions to many phenotypes. Here we report a spontaneous Novel Ataxic Phenotype in mice. Ataxia findings were evident at post-natal day 11 in NAP mice and rapidly worsened, resulting in preweaning lethality. Using genome sequencing and genome-wide mapping, we identified a 3' donor splice variant in exon 14 of Myo5a, encoding an actin-based motor protein....
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