Comp^tm1Mbri
Targeted Allele Detail

Summary

• Symbol: Comp^tm1Mbri
• Name: cartilage oligomeric matrix protein; targeted mutation 1, Michael Briggs
• MGI ID: MGI:3758741
• Synonyms: p.Thr583Met COMP
• Gene: Comp Location: Chr8:70826208-70834716 bp, + strand Genetic Position: Chr8, 34.15 cM
• Alliance: Comp^tm1Mbri page

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 details: A 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)

Disease models

Expression

In Structures Affected by this Mutation:

9 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: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)