Fxn^tm1Pand
Targeted Allele Detail

Summary

• Symbol: Fxn^tm1Pand
• Name: frataxin; targeted mutation 1, Massimo Pandolfo
• MGI ID: MGI:3641251
• Synonyms: frda^230GAA
• Gene: Fxn Location: Chr19:24238817-24257969 bp, - strand Genetic Position: Chr19, 19.39 cM, cytoband C1
• Alliance: Fxn^tm1Pand page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:109164
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: 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. (J:109164)

Disease models

Expression

In Mice Carrying this Mutation:

3 RNA-Seq or microarray experiment(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Fxn Mutation: 42 strains or lines available

References

• Original: J:109164 Miranda CJ, et al., Frataxin knockin mouse. FEBS Lett. 2002 Feb 13;512(1-3):291-7
• All: 12 reference(s)