Frataxin knockin mouse

FEBS Lett. 2002 Feb 13;512(1-3):291-7. doi: 10.1016/s0014-5793(02)02251-2.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Animals
  • Frataxin
  • Friedreich Ataxia / genetics*
  • Homeostasis
  • Iron / metabolism
  • Iron-Binding Proteins*
  • Mice
  • Mice, Mutant Strains*
  • Mitochondria / metabolism
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Trinucleotide Repeat Expansion / genetics*

Substances

  • Iron-Binding Proteins
  • Iron
  • Phosphotransferases (Alcohol Group Acceptor)