These mice express a (GAA)230 expansion repeat from the endogenous Fxn locus. Homozygotes produce an average of 75% of wildtype levels of frataxin protein. This mutant mouse strain may be useful in studies of Friedreich's ataxia.
Massimo Pandolfo, Universite Libre de Bruxelles
These mice express a (GAA)230 expansion repeat from the endogenous Fxn locus. Homozygotes produce an average of 75% of wild-type levels of frataxin protein, as assayed by Western blot densitometry analysis. The GAA repeat size was found to be stable over the 6 generations studied. Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This mutant mouse strain may be useful in studies of Friedreich's ataxia.
Importation of this model was supported by the Friedreich's Ataxia Research Alliance (FARA).
A targeting vector containing a loxP site flanked PGK-neo cassette and the (GAA)230 expansion repeat was inserted into intron 1. The construct was electroporated into 129/Sv derived embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts. The resulting male chimeric animals were crossed to C57BL/6J female mice, and then backcrossed to C57BL/6J for 30 generations.
|Allele Name||targeted mutation 1, Massimo Pandolfo|
|Allele Type||Targeted (Inserted expressed sequence, Humanized sequence)|
|Gene Symbol and Name||Fxn, frataxin|
|Promoter||Fxn, frataxin, mouse, laboratory|
|Strain of Origin||129/Sv|
|Molecular Note||A targeting vector was designed to insert a GAA230 repeat expansion and a floxed neomycin resistance cassette into intron 1 of the locus. Western blot demonstrated that mutants expressed frataxin protein at 75% of wild-type levels in all tissues examined.|
|Mutations Made By|| |
Massimo Pandolfo, Universite Libre de Bruxelles
When maintaining a live colony, these mice can be bred as homozygotes.
When using the frda230GAA mouse strain in a publication, please cite the originating article(s) and include JAX stock #008470 in your Materials and Methods section.
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