Journal article

Mouse Models for Methylmalonic Aciduria

Heidi L Peters, James J Pitt, Leonie R Wood, Natasha J Hamilton, Joseph P Sarsero, Nicole E Buck



Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of methylmalonyl-CoA mutase (MCM). MMA is associated with significant morbidity and mortality, thus therapies are necessary to help improve quality of life and prevent renal and neurological complications. Transgenic mice carrying an intact human MCM locus have been produced. Four separate transgenic lines were established and characterised as carrying two, four, five or six copies of the transgene in a single integration site. Transgenic mice from the 2-copy line were crossed with heterozygous knockout MCM mice to generate mice hemizygous for the human transgene on a homozygous knockout ..

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Awarded by National Health and Medical Research Council

Funding Acknowledgements

This work was supported by the Murdoch Childrens Research Institute, National Health and Medical Research Council (#491256) and the Victorian Government's Operational Infrastructure Support Program. HP was the recipient of an National Health and Medical Research Council clinical Career Development Award. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.