Beschreibung:
Musculoskeletal anomalies are a heterogeneous group of fairly common, often with severe clinical symptoms, but mostly fatal disorders in human and animals. By far, complex vertebral malformation (CVM) and Brachyspina are the most important lethal osteodysplasias described in Holstein Friesian (HF) cattle. First aim of this thesis was to elucidate the genetic cause of a lethal case of osteogenesis imperfecta (OI) in a newborn HF calf. The molecular mechanism underlying OI in humans has been clearly explored, with a series of candidate genes reported. However, none of these hitherto known gen...