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Comptm2.1Mbri
Targeted Allele Detail
Nomenclature
Symbol: Comptm2.1Mbri
Name: cartilage oligomeric matrix protein; targeted mutation 2.1, Michael Briggs
MGI ID: MGI:5550566
Synonyms: Comp D469del
Gene: Comp  Location: Chr8:70373558-70382066 bp, + strand  Genetic Position: Chr8, 34.15 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:206511
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted
Mutation:    Insertion
 
Mutation detailsThe allele was generated by site directed mutagenesis that delete 3 bp in exon 13 (TGACGATGAT---AATG). This mutation (D469del) occurs in the TSP3 region of the protein. Cre-mediated recombination removed the floxed selection cassette in intron 16. Western blot analysis confirmed expression of the monomeric protein. (J:206511)
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: 9 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:206511 Suleman F, et al., A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. Hum Mutat. 2012 Jan;33(1):218-31
All:  5 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