title: Frataxin knockin mouse.
abstract: 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.
authors.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.
authors.forename: Carlos J
authors.initials: CJ
authors.lastname: Miranda
authors.forename: Manuela M
authors.initials: MM
authors.lastname: Santos
authors.forename: Keiichi
authors.initials: K
authors.lastname: Ohshima
authors.forename: Julie
authors.initials: J
authors.lastname: Smith
authors.forename: Liangtao
authors.initials: L
authors.lastname: Li
authors.forename: Michaeline
authors.initials: M
authors.lastname: Bunting
authors.forename: Mireille
authors.initials: M
authors.lastname: Cossée
authors.forename: Michael
authors.initials: M
authors.lastname: Koenig
authors.forename: Jorge
authors.initials: J
authors.lastname: Sequeiros
authors.forename: Jerry
authors.initials: J
authors.lastname: Kaplan
authors.forename: Massimo
authors.initials: M
authors.lastname: Pandolfo
mesh_terms: D000483:Alleles; D000818:Animals; D005621:Friedreich Ataxia / Q000235:genetics*; D006706:Homeostasis; D007501:Iron / Q000378:metabolism; D033862:Iron-Binding Proteins; D051379:Mice; D008817:Mice, Mutant Strains; D008928:Mitochondria / Q000378:metabolism; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D000096923:Frataxin
chemical_list: D007501:Iron; D033862:Iron-Binding Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D000096923:Frataxin