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Targeted Allele Detail
Symbol: Comptm1Mbri
Name: cartilage oligomeric matrix protein; targeted mutation 1, Michael Briggs
MGI ID: MGI:3758741
Synonyms: p.Thr583Met COMP
Gene: Comp  Location: Chr8:70373548-70382065 bp, + strand  Genetic Position: Chr8, 34.15 cM
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+
Allele Type:    Targeted
Mutation:    Single point mutation
Mutation detailsA Thr583Met 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  1 strain or line available
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:  6 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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