GMC – Dysmorphology Screen

Coordinator:		Prof. Martin Hrabé de Angelis
Institution:		Institut für Experimentelle Genetik, Helmholtz Zentrum München
Homepage:		www.mouseclinic.de

With an incidence of 20% in the adult population and a higher prevalence in women and in older age groups, human skeletal diseases represent a major cause of physical disabilities in Canada, US and Europe (World Health Report 2001). A direct consequence is a huge burden corresponding to direct and indirect long-term disability and morbidity costs. Studies of mutant mice have led to a dramatic increase in the understanding of bone biology and have in many cases been essential for the discovery and understanding of bone-related human diseases. The aim of the Dysmorphology, Bone and Cartilage Screen of the German Mouse Clinic (GMC) is the identification and characterization of mouse models for bone-related human diseases like osteoporosis, osteoarthritis, osteogenesis imperfecta, scoliosis or limb defects. Our screen takes over the analysis of mouse mutants for medically relevant bone and cartilage parameters and supports the discovery of underlying genes. In the GMC II an activity platform will be established to test gene-environment interactions on bone health. Detection of potential gene-environment interactions is of great interest in the determination of bone health status.




                                

The Dysmorphology, Bone and Cartilage Screen of the German Mouse Clinic (GMC)
The aim of the Dysmorphology, Bone and Cartilage Screen of the German Mouse Clinic (GMC) is the identification and characterization of mouse models for bone-related human diseases like osteoporosis, osteoarthritis, osteogenesis imperfecta, scoliosis or limb defects. We have implemented an experimental set-up utilizing e.g. DEXA (dual energy X-ray absorption), X-ray imaging, micro-computed tomography (µCT, see figure) and peripheral quantitative computed tomography (pQCT), markers of bone metabolism and hormonal regulation.