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pubmed:abstractText |
Friedreich ataxia is the consequence of frataxin deficiency, most often caused by a GAA repeat expansion in intron 1 of the corresponding gene. Frataxin is a mitochondrial protein involved in iron homeostasis. As an attempt to generate a mouse model of the disease, we introduced a (GAA)(230) repeat within the mouse frataxin gene by homologous recombination. GAA repeat knockin mice were crossed with frataxin knockout mice to obtain double heterozygous mice expressing 25-36% of wild-type frataxin levels. These mice were viable and did not develop anomalies of motor coordination, iron metabolism or response to iron loading. Repeats were meiotically and mitotically stable.
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pubmed:affiliation |
Department of Medicine, Centre Hospitalier de l'Université de Montréal, Hôpital Notre-Dame, Pav de Seve--Y5608, 1560 rue Sherbrooke Est, H2L 4M1, Montréal, QC, Canada.
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