Comp^tm2.1Mbri
Targeted Allele Detail

Summary

• Symbol: Comp^tm2.1Mbri
• Name: cartilage oligomeric matrix protein; targeted mutation 2.1, Michael Briggs
• MGI ID: MGI:5550566
• Synonyms: Comp D469del
• Gene: Comp Location: Chr8:70826208-70834716 bp, + strand Genetic Position: Chr8, 34.15 cM
• Alliance: Comp^tm2.1Mbri page

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 details: The 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)

Disease models

Expression

In Structures Affected by this Mutation:

8 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 Comp Mutation: 37 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)