Pkp2^tm1.1Jato
Targeted Allele Detail

Summary

• Symbol: Pkp2^tm1.1Jato
• Name: plakophilin 2; targeted mutation 1.1, Jeffrey A Towbin
• MGI ID: MGI:7521959
• Synonyms: Pkp2-L362fsX21
• Gene: Pkp2 Location: Chr16:16031209-16090576 bp, + strand Genetic Position: Chr16, 10.09 cM, cytoband B1
• Alliance: Pkp2^tm1.1Jato page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:339263
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Insertion
• Mutation details: A thymidine in position c.1086 was inserted in exon 5 and an FRT-flanked PGK-neomycin selection cassette was inserted in intron 4. This insertion is equivalent to human c.1212InsT seen in a familial case of arrhythmogenic cardiomyopathy. The neomycin cassette was removed via flp-mediated recombination. (J:339263)

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:339263 Camors EM, et al., Progressive Reduction in Right Ventricular Contractile Function Attributable to Altered Actin Expression in an Aging Mouse Model of Arrhythmogenic Cardiomyopathy. Circulation. 2022 May 24;145(21):1609-1624
• All: 1 reference(s)