Pcsk2^tm1Dfs
Targeted Allele Detail

Summary

• Symbol: Pcsk2^tm1Dfs
• 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: Pcsk2^tm1Dfs page

Mutation origin

• 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⁺

Mutation description

• 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)

Expression

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

Tumor Data

List all tumor models in MMHCdb carrying Pcsk2^tm1Dfs

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: 37 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: Pancreatic Neuroendocrine Tumors J:236511.

References

• 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)