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Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes.

Nature genetics | Oct 8, 2000

http://www.ncbi.nlm.nih.gov/pubmed/11017072

Mice carrying mitochondrial DNA (mtDNA) with pathogenic mutations would provide a system in which to study how mutant mtDNAs are transmitted and distributed in tissues, resulting in expression of mitochondrial diseases. However, no effective procedures are available for the generation of these mice. Isolation of mouse cells without mtDNA (rho0) enabled us to trap mutant mtDNA that had accumulated in somatic tissues into rho0 cells repopulated with mtDNA (cybrids). We isolated respiration-deficient cybrids with mtDNA carrying a deletion and introduced this mtDNA into fertilized eggs. The mutant mtDNA was transmitted maternally, and its accumulation induced mitochondrial dysfunction in various tissues. Moreover, most of these mice died because of renal failure, suggesting the involvement of mtDNA mutations in the pathogeneses of new diseases.

Pubmed ID: 11017072 RIS Download

Mesh terms: Animals | Base Sequence | Brain | Crosses, Genetic | DNA, Mitochondrial | Female | Male | Mice | Mice, Inbred C57BL | Mice, Mutant Strains | Mitochondria | Mitochondrial Myopathies | Molecular Sequence Data | Oxygen Consumption | Sequence Deletion | Synaptosomes | Zygote

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Mouse Genome Informatics (Data, Gene Annotation)

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