Fxn^em1Alma
Endonuclease-mediated Allele Detail

Summary

• Symbol: Fxn^em1Alma
• Name: frataxin; endonuclease-mediated mutation 1, Alain Martelli
• MGI ID: MGI:8472126
• Synonyms: Fxn^flox
• Gene: Fxn Location: Chr19:24238817-24257969 bp, - strand Genetic Position: Chr19, 19.39 cM, cytoband C1
• Alliance: Fxn^em1Alma page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Conditional ready)
• Mutation: Insertion
• Mutation details:

  Exon 2 was flanked by loxP sites via CRISPR/Cas9-mediated recombination. One loxP is positioned at 207 base pairs (bp) upstream of exon 2 at GRCm39/mm39 chr19:24277480-81 and the other at 121 bp downstream of exon 2 at chr19:24277058-61. (J:345565)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Fxn Mutation: 44 strains or lines available

References

• Original: J:345565 Perfitt TL, et al., A modified mouse model of Friedreich's ataxia with conditional Fxn allele homozygosity delays onset of cardiomyopathy. Am J Physiol Heart Circ Physiol. 2024 Feb 1;326(2):H357-H369
• All: 1 reference(s)