Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Comptm1Mbri
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:	Comptm1Mbri page

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 (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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

9 anatomical structure(s)

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:	36 strains or lines 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:	7 reference(s)