Pcsk5^vcc

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Species

Mus musculus

Symbol

Pcsk5^vcc

Category

allele

Allele of gene

Pcsk5

Transgenic Constructs

None

Synonyms

• Pcsk5^Vcc
• PPCS5A-C470R

Description

This mutation was identified phenotypically in a screen of progeny of ENU-treated mice via MRI examinaton of 15.5 days post-coitum embryos for cardiac malformations. The mutation comprises a T-to-C transition in exon 11 of the gene, resulting in substitution of arginine for cysteine at amino acid position 470 of both isoforms of the protein (C470R). This eliminates a disulfide bond in the P domain, which prevents the protein's export from the endoplasmic reticulum and destroys its proprotein convertase activity.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations