Cartilage oligomeric matrix protein-deficient mice have normal skeletal development.
Cartilage oligomeric matrix protein (COMP) belongs to the thrombospondin family and is a homopentamer primarily expressed in cartilage. Mutations in the COMP gene result in the autosomal dominant chondrodysplasias pseudoachondroplasia (PSACH) and some types of multiple epiphyseal dysplasia (MED), which are characterized by mild to severe short-limb dwarfism and early-onset osteoarthritis. We have generated COMP-null mice to study the role of COMP in vivo. These mice show no anatomical, histological, or ultrastructural abnormalities and show none of the clinical signs of PSACH or MED. Northern blot analysis and immunohistochemical analysis of cartilage indicate that the lack of COMP is not compensated for by any other member of the thrombospondin family. The results also show that the phenotype in PSACH/MED cartilage disorders is not caused by the reduced amount of COMP.
Svensson
Liz
L
Department of Cell and Molecular Biology, BMC, University of Lund, Sweden.
Aszódi
Attila
A
Heinegård
Dick
D
Hunziker
Ernst B
EB
Reinholt
Finn P
FP
Fässler
Reinhard
R
Oldberg
Ake
A
D000818:Animals; D002356:Cartilage / Q000033:anatomy & histology / Q000254:growth & development* / Q000648:ultrastructure; D016326:Extracellular Matrix Proteins / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism*; D005260:Female; D006023:Glycoproteins / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism*; D008297:Male; D064235:Matrilin Proteins; D051379:Mice; D008815:Mice, Inbred Strains; D008817:Mice, Mutant Strains; D012016:Reference Values; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012863:Skeleton; D013977:Tibia / Q000033:anatomy & histology / Q000254:growth & development
D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; C577540:Matn1 protein, mouse; D064235:Matrilin Proteins