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Journal Articles FEBS Letters Year : 2002

Frataxin knockin mouse

Carlos J. Miranda
  • Function : Author
Manuela M. Santos
  • Function : Author
Keiichi Ohshima
  • Function : Author
Julie Smith
  • Function : Author
Liangtao Li
  • Function : Author
Michaeline Bunting
  • Function : Author
Mireille Cossée
  • Function : Author
Jorge Sequeiros
  • Function : Author
Jerry Kaplan
  • Function : Author
Massimo Pandolfo
  • Function : Author

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.

Dates and versions

hal-04146344 , version 1 (29-06-2023)

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Cite

Carlos J. Miranda, Manuela M. Santos, Keiichi Ohshima, Julie Smith, Liangtao Li, et al.. Frataxin knockin mouse. FEBS Letters, 2002, 512 (1-3), pp.291-297. ⟨10.1016/s0014-5793(02)02251-2⟩. ⟨hal-04146344⟩
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