Frataxin knockin mouse

• Type: Article in International Scientific Journal
• Date: 2002

Authors

Miranda, CJ (Author) Other; Santos, MM (Author) Other; Ohshima, K (Author) Other; Smith, J (Author) Other; Li, LT (Author) Other; Bunting, M (Author) Other; Cossee, M (Author) Other; Koenig, M (Author) Other; Sequeiros, J (Author) ICBAS; Kaplan, J (Author) Other; Pandolfo, M (Author) Other

Journal

Title: FEBS Letters

Vol. 512

Pages: 291-297

ISSN: 0014-5793

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 135 Citations

Scopus - 158 Citations

Other information

Authenticus ID: P-000-QAQ

DOI: 10.1016/s0014-5793(02)02251-2

Abstract (EN): Friedreich ataxia is the consequence of frataxin deficiency, most often caused by a GAA repeat expansion in intron I 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 7