Pcolce^tm1Dgr
Targeted Allele Detail

Summary

• Symbol: Pcolce^tm1Dgr
• Name: procollagen C-endopeptidase enhancer protein; targeted mutation 1, Daniel S Greenspan
• MGI ID: MGI:3612407
• Synonyms: Pcolce^-
• Gene: Pcolce Location: Chr5:137603369-137609666 bp, - strand Genetic Position: Chr5, 76.59 cM
• Alliance: Pcolce^tm1Dgr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:104148
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance cassette replaced about 2.5 kb of sequence including the entire second and third exons which encode the N-terminal portion of the CUB domain. This deletion creates a frameshift such that a truncated transcript containing nothing downstream of the signal peptide in the original frame, and only 21 amino acids downstream of the frameshift translated into the new frame. RT-PCR failed to detect wild-type transcript in mutants. Protein was not detected in mutant MEFs. (J:104148)

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

Find Mice (IMSR)

• 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 Pcolce Mutation: 70 strains or lines available

References

• Original: J:104148 Steiglitz BM, et al., Procollagen C proteinase enhancer 1 genes are important determinants of the mechanical properties and geometry of bone and the ultrastructure of connective tissues. Mol Cell Biol. 2006 Jan;26(1):238-49
• All: 2 reference(s)