In:
FEBS Letters, Wiley, Vol. 512, No. 1-3 ( 2002-02-13), p. 291-297
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.
Type of Medium:
Online Resource
ISSN:
0014-5793
,
1873-3468
DOI:
10.1016/S0014-5793(02)02251-2
Language:
English
Publisher:
Wiley
Publication Date:
2002
detail.hit.zdb_id:
1460391-3
SSG:
12
Bookmarklink