Frataxin knockin mouse

• Tipo: Artigo em Revista Científica Internacional
• Data: 2002

Autores

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

Revista

Título: FEBS Letters

Vol. 512

Páginas: 291-297

ISSN: 0014-5793

Editora: Wiley-Blackwell

Indexação

ISI Web of Knowledge - 135 Citações

Scopus - 158 Citações

Outras Informações

ID Authenticus: 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 7