Rbfox2^em1Akal
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rbfox2^em1Akal
• Name: RNA binding protein, fox-1 homolog (C. elegans) 2; endonuclease-mediated mutation 1, Auinash Kalsotra
• MGI ID: MGI:6442563
• Synonyms: Rbfox2^delta43
• Gene: Rbfox2 Location: Chr15:76963190-77191204 bp, - strand Genetic Position: Chr15, 36.4 cM, cytoband E1
• Alliance: Rbfox2^em1Akal page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 1.4 kb deletion that includes the 43 nucleotide muscle-specific exon. Western blot analysis confirmed the expression of the non-muscle isoform. (J:286588)

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 Rbfox2 Mutation: 80 strains or lines available

References

• Original: J:286588 Misra C, et al., Aberrant Expression of a Non-muscle RBFOX2 Isoform Triggers Cardiac Conduction Defects in Myotonic Dystrophy. Dev Cell. 2020 Mar 23;52(6):748-763.e6
• All: 1 reference(s)