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

Symbol:	Pcsk2tm1Dfs
Name:	proprotein convertase subtilisin/kexin type 2; targeted mutation 1, Donald Steiner
MGI ID:	MGI:1857445
Synonyms:	PC2-, PC2KO, SPC2-
Gene:	Pcsk2  Location: Chr2:143388076-143658205 bp, + strand  Genetic Position: Chr2, 70.89 cM, cytoband F3-H2
Alliance:	Pcsk2tm1Dfs page

Germline Transmission:	Earliest citation of germline transmission: J:41505
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A neomycin resistance cassette was inserted into exon 3, which encodes the activation site at the junction of the propeptide and mature enzyme. RT-PCR experiments demonstrated that exon 3 was absent from transcripts produced from this allele, but Western blot analysis revealed the presence of a truncated protein of a size predicted by this mutation. However, no mature processed protein was detected and there was no evidence of enzyme activity in homozygous mice. (J:41505)

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

In Mice Carrying this Mutation:	23 assay results
In Structures Affected by this Mutation:	8 anatomical structure(s)

List all tumor models in MMHCdb carrying Pcsk2tm1Dfs

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 Pcsk2 Mutation:	35 strains or lines available

Original:	J:41505 Furuta M, et al., Defective prohormone processing and altered pancreatic islet morphology in mice lacking active SPC2. Proc Natl Acad Sci U S A. 1997 Jun 24;94(13):6646-51
All:	34 reference(s)