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Targeted Allele Detail
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
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 detailsA 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: 7 anatomical structures
Find Mice (IMSR)
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:  24 strains or lines available
Phenotypic Similarity to Human Syndrome: Pancreatic Neuroendocrine Tumors J:236511.
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:  32 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.17
The Jackson Laboratory