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Pcolcetm1Dgr
Targeted Allele Detail
Summary
Symbol: Pcolcetm1Dgr
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: Pcolcetm1Dgr 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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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)

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
11/19/2024
MGI 6.24
The Jackson Laboratory