About   Help   FAQ
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 and curated references for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
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:  48 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.11
The Jackson Laboratory