Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

© 2018 Elsevier Inc. All rights reserved. In vivo models represent important resources for investigating the pathophysiological mechanisms underlying inherited disorders, and for preclinical translational studies that may include the assessments of new treatments. In the study of skeletal diseases, which may affect multiple cell types or multiple organs, in vivo models provide specific advantages over in vitro models, which are limited to investigation of isolated systems. In recent years, the mouse has become the popular choice for developing such in vivo mammalian models, as it has a genome that shares ~85% identity to that of man, and has many physiological systems that are similar to those in man. Moreover, a number of methods have been developed to alter genes in the mouse, thereby generating models for human diseases, which may be due to loss- or gain-of-function mutations. These methods, which have been used to generate germline mutations in the mouse genome, include: chemical mutagenesis; conventional, conditional, and inducible knock-out models; knock-in models, transgenic models, and genome editing. This chapter reviews some of these different strategies, as well as several mouse models that have been successfully generated by these methods for human hereditary disorders of mineral and skeletal homeostasis. In addition, some of the advances are described that have been made in our understanding of the mechanisms of these human diseases by investigations of these mouse models.

Original publication

DOI

10.1016/B978-0-12-804182-6.00007-1

Type

Chapter

Book title

Genetics of Bone Biology and Skeletal Disease: Second Edition

Publication Date

31/10/2017

Pages

89 - 118