Article
A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease.
Cell reports - 13 Sept 2016
Kauppila Johanna H K, Baines Holly L, Bratic Ana, Simard Marie-Lune, Freyer Christoph, Mourier Arnaud, Stamp Craig, Filograna Roberta, Larsson Nils-Göran, Greaves Laura C, Stewart James B
Abstract excerpt
Mutations of mtDNA are an important cause of human disease, but few animal models exist. Because mammalian mitochondria cannot be transfected, the development of mice with pathogenic mtDNA mutations has been challenging, and the main strategy has therefore been to introduce mutations found in cell lines into mouse embryos. Here, we describe a phenotype-driven strategy that is based on detecting clonal expansion...
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