Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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: Chr19:17409683-17814996 bp, - strand  Genetic Position: Chr19, 12.86 cM
Alliance:	Pcsk5vcc page

Strain of Origin:

C57BL/6J

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

View phenotypes and curated references for all genotypes (concatenated display).

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

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:	95 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)