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Frataxin knockin mouse
Author(s) -
Miranda Carlos J,
Santos Manuela M,
Ohshima Keiichi,
Smith Julie,
Li Liangtao,
Bunting Michaeline,
Cossée Mireille,
Koenig Michael,
Sequeiros Jorge,
Kaplan Jerry,
Pandolfo Massimo
Publication year - 2002
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/s0014-5793(02)02251-2
Subject(s) - frataxin , chemistry , microbiology and biotechnology , biology , mitochondrion , aconitase
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.