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Chemically induced Allele Detail
Symbol: Pcsk5vcc
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: Pcsk5Vcc, PPCS5A-C470R
Gene: Pcsk5  Location: Chr19:17432832-17837632 bp, - strand  Genetic Position: Chr19, 12.86 cM
Strain of Origin:  C57BL/6J
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis 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
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Pcsk5 Mutation:  5 strains or lines available
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)

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