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Comptm1Mbri
Targeted Allele Detail
Nomenclature
Symbol: Comptm1Mbri
Name: cartilage oligomeric matrix protein; targeted mutation 1, Michael Briggs
MGI ID: MGI:3758741
Synonyms: p.Thr583Met COMP
Gene: Comp  Location: Chr8:70373558-70382066 bp, + strand  Genetic Position: Chr8, 34.15 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:125086
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsA T583M mutation (ACA to ATG) was created in exon 16 using site-directed mutagenesis and then knocked into the open reading frame. A floxed neo cassette used for ES cell selection was removed by cre-mediated recombination via a cross to a deleter Cre line (not specified). Insertion of the point mutations was confirmed by sequencing exon 16 in ES cells. Comparable protein expression to wild-type was confirmed by western blot and RT-PCR of 3 week old growth plate cartilage. (J:125086)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 11 anatomical structures
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 Comp Mutation:  20 strains or lines available
References
Original:  J:125086 Pirog-Garcia KA, et al., Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP. Hum Mol Genet. 2007 Sep 1;16(17):2072-88
All:  7 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
03/24/2020
MGI 6.15
The Jackson Laboratory