Pkp2^em1Evro
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pkp2^em1Evro
• Name: plakophilin 2; endonuclease-mediated mutation 1, Eva van Rooij
• MGI ID: MGI:7520908
• Synonyms: Pkp2^c.1755delA
• Gene: Pkp2 Location: Chr16:16031209-16090576 bp, + strand Genetic Position: Chr16, 10.09 cM, cytoband B1
• Alliance: Pkp2^em1Evro page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:339258
• Parent Cell Line: IB10/E14IB10 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a single base pair deletion at position 1755 (c.1755delA). This corresponds to the c.2013delC pathogenic mutation in humans with arrhythmogenic cardiomyopathy. (J:339258)

Expression

In Mice Carrying this Mutation:

1 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: 0 strains available Cell Lines: 0 lines available
• Carrying any Pkp2 Mutation: 41 strains or lines available

References

• Original: J:339258 Tsui H, et al., Desmosomal protein degradation as an underlying cause of arrhythmogenic cardiomyopathy. Sci Transl Med. 2023 Mar 22;15(688):eadd4248
• All: 1 reference(s)