RGD Reference Report - Matrilin-3 is dispensable for mouse skeletal growth and development. - Rat Genome Database

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Matrilin-3 is dispensable for mouse skeletal growth and development.

Authors: KO, Y  Kobbe, B  Nicolae, C  Miosge, N  Paulsson, M  Wagener, R  Aszodi, A 
Citation: Ko Y, etal., Mol Cell Biol 2004 Feb;24(4):1691-9.
RGD ID: 1556838
Pubmed: PMID:14749384   (View Abstract at PubMed)
PMCID: PMC344189   (View Article at PubMed Central)

Matrilin-3 belongs to the matrilin family of extracellular matrix (ECM) proteins and is primarily expressed in cartilage. Mutations in the gene encoding human matrilin-3 (MATN-3) lead to autosomal dominant skeletal disorders, such as multiple epiphyseal dysplasia (MED), which is characterized by short stature and early-onset osteoarthritis, and bilateral hereditary microepiphyseal dysplasia, a variant form of MED characterized by pain in the hip and knee joints. To assess the function of matrilin-3 during skeletal development, we have generated Matn-3 null mice. Homozygous mutant mice appear normal, are fertile, and show no obvious skeletal malformations. Histological and ultrastructural analyses reveal endochondral bone formation indistinguishable from that of wild-type animals. Northern blot, immunohistochemical, and biochemical analyses indicated no compensatory upregulation of any other member of the matrilin family. Altogether, our findings suggest functional redundancy among matrilins and demonstrate that the phenotypes of MED disorders are not caused by the absence of matrilin-3 in cartilage ECM.

Objects referenced in this article
Gene Comp cartilage oligomeric matrix protein Mus musculus
Gene Emcn endomucin Mus musculus
Gene Matn1 matrilin 1, cartilage matrix protein Mus musculus
Gene Matn2 matrilin 2 Mus musculus
Gene Matn3 matrilin 3 Mus musculus
Gene Matn4 matrilin 4 Mus musculus

Additional Information