title: Transgenic mice with targeted inactivation of the Col2 alpha 1 gene for collagen II develop a skeleton with membranous and periosteal bone but no endochondral bone.
abstract: Homologous recombination in embryonic stem cells was used to prepare transgenic mice with an inactivated Col2a1 gene for collagen II, the major protein component of the extracellular matrix of cartilage. Heterozygous mice had a minimal phenotype. Homozygous mice developed into fetuses that were delivered vaginally but died either just before or shortly after birth. The cartilage in the mice consisted of highly disorganized chondrocytes with a complete lack of extracellular fibrils discernible by electron microscopy. There was no endochondrial bone or epiphyseal growth plate in long bones. However, many skeletal structures such as the cranium and ribs were normally developed and mineralized. The results demonstrate that a well-organized cartilage matrix is required as a primary tissue for development of some components of the vertebrate skeleton, but it is not essential for others.
authors.affiliation: Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
authors.forename: S W
authors.initials: SW
authors.lastname: Li
authors.forename: D J
authors.initials: DJ
authors.lastname: Prockop
authors.forename: H
authors.initials: H
authors.lastname: Helminen
authors.forename: R
authors.initials: R
authors.lastname: Fässler
authors.forename: T
authors.initials: T
authors.lastname: Lapveteläinen
authors.forename: K
authors.initials: K
authors.lastname: Kiraly
authors.forename: A
authors.initials: A
authors.lastname: Peltarri
authors.forename: J
authors.initials: J
authors.lastname: Arokoski
authors.forename: H
authors.initials: H
authors.lastname: Lui
authors.forename: M
authors.initials: M
authors.lastname: Arita
mesh_terms: D000818:Animals; D000831:Animals, Newborn; D001483:Base Sequence; D001842:Bone and Bones / Q000503:physiopathology*; D003094:Collagen / Q000235:genetics* / Q000378:metabolism; D017931:DNA Primers; D005260:Female; D015870:Gene Expression; D018390:Gene Targeting; D051379:Mice; D008810:Mice, Inbred C57BL; D008822:Mice, Transgenic; D008969:Molecular Sequence Data; D010012:Osteogenesis / Q000502:physiology*; D010641:Phenotype
chemical_list: D017931:DNA Primers; D003094:Collagen