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Allele : Pln<tm1.1Crcg> phospholamban; targeted mutation 1.1, Cardiovascular Research Center Groningen

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.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • R14del Pln,
  • R14del Pln
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

7 Publication categories