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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)

Nyckelord

Extracellular Matrix Proteins : metabolism

Glycoproteins : deficiency

Female

Glycoproteins : genetics

Glycoproteins : metabolism

Male

Mice

Inbred Strains

Mutant Strains

Reference Values

Skeleton

Reverse Transcriptase Polymerase Chain Reaction

Support

Non-U.S. Gov't

Tibia : growth & development

Tibia : anatomy & histology

Extracellular Matrix Proteins : genetics

Extracellular Matrix Proteins : deficiency

Cartilage : ultrastructure

Cartilage : growth & development

Cartilage : anatomy & histology

Animal

Publikations- och innehållstyp

art (ämneskategori)

ref (ämneskategori)