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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
