Fxr1^em2Geno
Endonuclease-mediated Allele Detail

Summary

• Symbol: Fxr1^em2Geno
• Name: FMR1 autosomal homolog 1; endonuclease-mediated mutation 2, Genoway
• MGI ID: MGI:6468028
• Synonyms: dupA
• Gene: Fxr1 Location: Chr3:34074133-34124129 bp, + strand Genetic Position: Chr3, 16.41 cM, cytoband B
• Alliance: Fxr1^em2Geno page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Insertion
• CRISPR/Cas9 genome editing technology was used to generate a 1-bp insertion (dupA) in exon 15. (J:276784)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Fxr1 Mutation: 164 strains or lines available

References

• Original: J:276784 Estan MC, et al., Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun. 2019 Feb 15;10(1):797
• All: 1 reference(s)