Pcsk5^vcc
Chemically induced Allele Detail

Summary

• Symbol: Pcsk5^vcc
• Name: proprotein convertase subtilisin/kexin type 5; VACTERL (vertebral, anorectal, cardiac, tracheoesophageal, renal, limb malformation), caudal regression syndrome, and Currarino syndrome
• MGI ID: MGI:3795786
• Synonyms: Pcsk5^Vcc, PPCS5A-C470R
• Gene: Pcsk5 Location: Chr19:17409683-17814996 bp, - strand Genetic Position: Chr19, 12.86 cM
• Alliance: Pcsk5^vcc page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: 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. (J:136243)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	27 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Pcsk5 Mutation: 96 strains or lines available

References

• Original: J:136243 Szumska D, et al., VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. Genes Dev. 2008 Jun 1;22(11):1465-77
• All: 1 reference(s)