Animal Models for Understanding Human Skeletal Defects

Abstract

Skeletal defects, such as cleft palate, scoliosis, and shortening of the limb bones are common in the human population. Animal models have been essential for characterizing the molecular and cellular mechanisms that underlie these and other skeletal disorders. This chapter will explore the cellular origins of the vertebrate skeleton and introduce a selection of animal models for human disorders of the skull and facial bones, spinal column, and limbs. The common genetic pathways that build the skeleton of various vertebrate species and how these similarities facilitate the study of human developmental processes in laboratory animals will be a focus of discussion. This chapter will also highlight how current genome editing technologies can be applied to model various perturbations of human chromatin structure in laboratory animals.