Pkp2^em1Fshe
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pkp2^em1Fshe
• Name: plakophilin 2; endonuclease-mediated mutation 1, Farah Sheikh
• MGI ID: MGI:7310464
• Synonyms: Pkp2 IVS10-1 G>C
• Gene: Pkp2 Location: Chr16:16031209-16090576 bp, + strand Genetic Position: Chr16, 10.09 cM, cytoband B1
• Alliance: Pkp2^em1Fshe page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to C substitution at nucleotide -1 of exon 10 (c.2146-1G>C, i.e. IVS10-1G>C in human) generating a splice acceptor site mutation. (J:326270)

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 Pkp2 Mutation: 40 strains or lines available

References

• Original: J:326270 Liang Y, et al., Desmosomal COP9 regulates proteome degradation in arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Clin Invest. 2021 Jun 1;131(11)
• All: 1 reference(s)