| First Author | Miranda CJ | Year | 2002 |
| Journal | FEBS Lett | Volume | 512 |
| Issue | 1-3 | Pages | 291-7 |
| PubMed ID | 11852098 | Mgi Jnum | J:109164 |
| Mgi Id | MGI:3626028 | Doi | 10.1016/s0014-5793(02)02251-2 |
| Citation | Miranda CJ, et al. (2002) Frataxin knockin mouse. FEBS Lett 512(1-3):291-7 |
| abstractText | 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. |
