Primary Identifier | MGI:6449103 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Pln |
Transmission | Germline | Strain of Origin | C57BL/6N |
Is Recombinase | false | Is Wild Type | false |
molecularNote | 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. |