Thousands of human diseases are known to have a genetic component, although the penetrance of this effect and the contribution of environmental influences are highly variable. Recent advances in genotyping and DNA sequencing have facilitated the studies of familial inheritance, de novo mutations (Deciphering Developmental Disorders 2015; Wright et al. 2015) and numerous genome-wide association studies (GWAS) (Visscher et al. 2012), which have begun to identify the genetic loci underlying many of these diseases. However, despite such advances in human genetic analysis, unravelling the causative lesions, understanding the underlying molecular and cellular mechanisms and developing ways to prevent or treat such diseases still require experimental models (Nishizaki and Boyle 2016).
