Matrilin-3 Is Dispensable for Mouse Skeletal Growth and Development

Yaping Ko, Birgit Kobbe, Claudia Nicolae, Nicolai Miosge, Mats Paulsson, Raimund Wagener, Attila Aszódi

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55 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1691-1699
Number of pages9
JournalMolecular and cellular biology
Issue number4
StatePublished - Feb 2004

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Cell Biology


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