B6.129-Fxn^tm1.1Pand/J

Stock number: 011113
Product name: (GAA)₂₃₀Δneo
Research areas: Neurobiology Research

Description

These mice express a (GAA)₂₃₀ expansion repeat from the endogenous Fxn locus and do not carry the neo selection cassette. This mutant mouse strain may be useful in studies of Friedreich's ataxia.

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Detailed description

These frataxin (GAA)₂₃₀Δneo mice harbor the same frataxin (GAA)₂₃₀ expansion mutation as Stock No. 008470, with the exception that these (GAA)₂₃₀Δneo mice have had the neo selection cassette removed.

For a description of the frataxin (GAA)₂₃₀ expansion mutation still harboring the neo cassette, please see Stock No. 008470. The difference in phenotype between the (GAA)₂₃₀ mice and these (GAA)₂₃₀Δneo mice, if any, is currently under investigation (January 2011).

 

Importation of this model was supported by the Friedreich's Ataxia Research Alliance (FARA).

 

Development

To generate these frataxin (GAA)₂₃₀Δneo animals, mice heterozygous for the frataxin (GAA)₂₃₀ expansion mutation (Fxn^tm1Pand) were bred with mice harboring the embryonic cre-expressing mutation Meox2-Cre (Meox2^tm1(cre)Sor; Stock No. 003755). Progeny bearing the GAA expansion with the neo selection cassette deleted ((GAA)₂₃₀Δneo ; Fxn^tm1.1Pand) were bred together, and the Meox2-Cre mutation was selectively removed.

For a description of the frataxin (GAA)₂₃₀ expansion mutation (Fxn^tm1Pand), please see Stock No. 008470.

Allele

Symbol: Fxn^tm1.1Pand
Name: targeted mutation 1.1, Massimo Pandolfo
MGI accession ID: MGI:4881494
Generation method: Targeted
Attributes: Inserted expressed sequence; Humanized sequence
Synonyms: Fxn^GAA230
Marker symbol: Fxn
Marker name: frataxin
Marker synonyms: CyaY; FA; FARR; FRDA; RGD1565754; X25
Chromosome: 19
Strain of origin: 129/Sv
Molecular note: Mice carrying the Fxn^tm1Pand allele were crossed with mice carrying the Meox2^tm1(cre)Sor allele to remove the neomycin cassette, leaving an insertion of a GAA230 repeat expansion.