Pln^tm1.1Crcg
Targeted Allele Detail

Summary

• Symbol: Pln^tm1.1Crcg
• Name: phospholamban; targeted mutation 1.1, Cardiovascular Research Center Groningen
• MGI ID: MGI:6449103
• Synonyms: R14del Pln
• Gene: Pln Location: Chr10:53213782-53222095 bp, + strand Genetic Position: Chr10, 27.11 cM, cytoband B3
• Alliance: Pln^tm1.1Crcg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:292111
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The third exon (which contains the coding region for the PLN protein) was flanked by loxP sites ("floxed") and followed by a third exon of the murine Pln gene with the pathogenic R14del mutation (c.40_42delAGA). This pathogenic variant is associated with cardiomyopathy and heart failure in human patients. Cre-mediated recombination removed the wild-type exon. (J:292111)

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 Pln Mutation: 18 strains or lines available

References

• Original: J:292111 Eijgenraam TR, et al., The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy. Sci Rep. 2020 Jun 17;10(1):9819
• All: 5 reference(s)