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

Symbol:	Pcsk1tm1Dfs
Name:	proprotein convertase subtilisin/kexin type 1; targeted mutation 1, Donald F Steiner
MGI ID:	MGI:2384741
Synonyms:	PC1/3
Gene:	Pcsk1  Location: Chr13:75237945-75282980 bp, + strand  Genetic Position: Chr13, 40.63 cM, cytoband C2
Alliance:	Pcsk1tm1Dfs page

Germline Transmission:	Earliest citation of germline transmission: J:78369
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exon 1 and several putative transcription control elements were replaced with a neomycin selection cassette. The absence of transcript and protein in homozygous mutant mice was determined by Northern and Western blot analyses. (J:78369)

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

In Structures Affected by this Mutation:

6 anatomical structure(s)

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 Pcsk1 Mutation:	50 strains or lines available

Original:	J:78369 Zhu X, et al., Disruption of PC1/3 expression in mice causes dwarfism and multiple neuroendocrine peptide processing defects. Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10293-8
All:	12 reference(s)