期刊
CELL STRUCTURE AND FUNCTION
卷 25, 期 2, 页码 73-84出版社
JAPAN SOC CELL BIOLOGY
DOI: 10.1247/csf.25.73
关键词
skeletogenesis; extracellular matrix; skeletal disorders; knockout mice
类别
Formation of the vertebrate skeleton and the proper functions of bony and cartilaginous elements are determined by extracellular, cell surface and intracellular molecules, Genetic and biochemical analyses of human heritable skeletal disorders as well as the generation of knockout mice provide useful tools to identify the key players of mammalian skeletogenesis, This review summarises our recent work with transgenic animals carrying ablated genes for cartilage extracellular matrix proteins, Some of these mice exhibit a lethal phenotype associated with severe skeletal defects (type II collagen-null, perlecan-null), whereas others show mild (type IX collagen-null) or no skeletal abnormalities (matrilin-1-null, fibromudulin-null, tenascin-C-null), The appropriate human genetic disorders are discussed and contrasted with the knockout mice phenotypes.
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