title: Rapid phenotyping of knockout mice to identify genetic determinants of bone strength.
abstract: The genetic determinants of osteoporosis remain poorly understood, and there is a large unmet need for new treatments in our ageing society. Thus, new approaches for gene discovery in skeletal disease are required to complement the current genome-wide association studies in human populations. The International Knockout Mouse Consortium (IKMC) and the International Mouse Phenotyping Consortium (IMPC) provide such an opportunity. The IKMC generates knockout mice representing each of the known protein-coding genes in C57BL/6 mice and, as part of the IMPC initiative, the Origins of Bone and Cartilage Disease project identifies mutants with significant outlier skeletal phenotypes. This initiative will add value to data from large human cohorts and provide a new understanding of bone and cartilage pathophysiology, ultimately leading to the identification of novel drug targets for the treatment of skeletal disease.
authors.affiliation: Molecular Endocrinology LaboratoryDepartment of Medicine, Imperial College London, London, UK.
authors.forename: Bernard
authors.initials: B
authors.lastname: Freudenthal
authors.affiliation: Molecular Endocrinology LaboratoryDepartment of Medicine, Imperial College London, London, UK.
authors.forename: John
authors.initials: J
authors.lastname: Logan
authors.affiliation: Garvan Institute of Medical ResearchSydney, New South Wales, Australia.
authors.forename: Peter I
authors.initials: PI
authors.lastname: Croucher
authors.affiliation: Molecular Endocrinology LaboratoryDepartment of Medicine, Imperial College London, London, UK d.bassett@imperial.ac.uk graham.williams@imperial.ac.uk.
authors.forename: Graham R
authors.initials: GR
authors.lastname: Williams
authors.affiliation: Molecular Endocrinology LaboratoryDepartment of Medicine, Imperial College London, London, UK d.bassett@imperial.ac.uk graham.williams@imperial.ac.uk.
authors.forename: J H Duncan
authors.initials: JH
authors.lastname: Bassett
mesh_terms: D000818:Animals; D001847:Bone Diseases / Q000235:genetics* / Q000503:physiopathology; D001842:Bone and Bones / Q000503:physiopathology; D002357:Cartilage Diseases / Q000235:genetics* / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout / Q000235:genetics*; D010641:Phenotype
keywords: bone; gene discovery; genetics; osteoporosis