肌萎缩侧索硬化
突变体
生物
突变
分子生物学
遗传学
基因
疾病
医学
病理
作者
Rebekah van Bruggen,Katarina Maksimovic,Justin You,David Duc Tran,Hyeok Jun Lee,Mashiat Khan,Ching Serena Kao,Jihye Rachel Kim,Woo In Cho,Xiao Xiao Chen,Jeehye Park
标识
DOI:10.1016/j.bbrc.2021.06.052
摘要
The F115C mutation in the MATR3 gene has been linked to amyotrophic lateral sclerosis (ALS). To determine the pathogenicity of the F115C mutation and the mechanism by which this mutation causes ALS, we generated mice that harbor the F115C mutation in the endogenous murine Matr3 locus. Heterozygous or homozygous MATR3 F115C knock-in mice were viable and did not exhibit motor deficits up to 2 years of age. The mutant mice showed no significant differences in the number of Purkinje cells or motor neurons compared to wild-type littermates. Neuropathological examination revealed an absence of MATR3 and TDP-43 pathology in Purkinje cells and motor neurons in the mutant mice. Together, our results suggest that the F115C mutation in MATR3 may not confer pathogenicity.
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