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  A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease

Kauppila, J. H. K., Baines, H. L., Bratic, A., Simard, M.-L., Freyer, C., Mourier, A., et al. (2016). A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease. Cell Rep, 16(11), 2980-90. doi:10.1016/j.celrep.2016.08.037.

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 Creators:
Kauppila, J. H. K.1, Author           
Baines, H. L., Author
Bratic, A.1, Author           
Simard, M.-L.1, Author           
Freyer, C., Author
Mourier, A.1, Author           
Stamp, C., Author
Filograna, R., Author
Larsson, N.G.1, Author           
Greaves, L. C., Author
Stewart, J. B.2, Author           
Affiliations:
1Department Larsson - Mitochondrial Biology, Max Planck Institute for Biology of Ageing, Max Planck Society, ou_1942286              
2Stewart – Mitochondrial Mutations and Genome Co-evolution, Research Groups, Max Planck Institute for Biology of Ageing, Max Planck Society, ou_1942301              

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 Abstract: 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 of pathogenic mtDNA mutations in colonic crypts of founder mice derived from heterozygous mtDNA mutator mice. As proof of concept, we report the generation of a mouse line transmitting a heteroplasmic pathogenic mutation in the alanine tRNA gene of mtDNA displaying typical characteristics of classic mitochondrial disease. In summary, we describe a straightforward and technically simple strategy based on mouse breeding and histology to generate animal models of mtDNA-mutation disease, which will be of great importance for studies of disease pathophysiology and preclinical treatment trials.

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 Dates: 2016-09-132016-09-15
 Publication Status: Published in print
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 Identifiers: Other: 27626666
DOI: 10.1016/j.celrep.2016.08.037
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Title: Cell Rep
  Alternative Title : Cell reports
Source Genre: Journal
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Pages: - Volume / Issue: 16 (11) Sequence Number: - Start / End Page: 2980 - 90 Identifier: -