Mypn^tm1.1Epu

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Species

Mus musculus

Symbol

Mypn^tm1.1Epu

Category

allele

Allele of gene

Mypn

Transgenic Constructs

None

Synonyms

• Mypn^Q526X

Description

The targeting vector was designed to insert a mutation (Q526X) into exon 10. A floxed neo cassette was inserted into exon 10 and was removed via cre-mediated recombination. This mutation is homologous to the nonsense autosomal dominant mutation Q529X in humans with familial restrictive cardiomyopathy. Homozygous mutant mice show impaired mRNA transcription in heart and skeletal muscle relative to wild-type and heterozygous littermates. Western blotting confirmed that no full-length or truncated protein is detectable in skeletal muscle from homozygous mutant mice.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations