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.

Our preclinical efficacy testing services offer scientific expertise and an array of target-based and phenotype-based outcome measures, both in vivo and at endpoint, for flexible study designs and assay development in mouse models of Friedreich's Ataxia. See our full service platform.

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
Marker symbol: Fxn
Marker name: frataxin
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.