Development of a large porcine model of osteogenesis imperfecta type I

Osteogenesis imperfecta (OI) comprises a group of disorders that lead to bone fragility. The most common forms are caused by pathogenic variants in COL1A1 and COL1A2. There are many different animal models OI from zebrafish to dogs, with murine models being the most used model. In this brief study, we describe the successful generation of the first large animal porcine model of OI Type I carrying a clinically relevant pathogenic variant, c.757C>T (p.Arg253Ter). These pigs exhibited classic features of OI Type I including blue sclera, low bone mass, and bone fragility. This model is more genetically and physiologically similar to humans and will be useful in studying the skeletal and extra-skeletal symptoms associated with OI.