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| Nomenclature |
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Symbol:
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Comptm1Mbri
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Name:
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cartilage oligomeric matrix protein;
targeted mutation 1, Michael Briggs
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MGI ID: |
MGI:3758741 |
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Synonyms: |
p.Thr583Met COMP |
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Gene:
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Comp
Location:
Chr8:70373548-70382065 bp, + strand
Genetic Position: Chr8,
34.15 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:125086
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Single point mutation |
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Mutation details: A 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Comp Mutation:
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1 strain or line available |
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
