This article is a bibliographic review concerning mouse mutations, spontane
ous, induced or genetically engineered, as models of human genetic diseases
. Since the beginning of the last century, mouse models have been instrumen
tal in the understanding of the pathogenesis of many diseases and designing
of new therapies. A number of recent technological advances in embryo mani
pulation and many large-scale mutagenesis screens will dramatically increas
e the availability of new mouse models in the near future. In the "post-gen
omic" era, mouse mutants will have a significant role as a model system for
functional genome analysis of the upcoming whole-genome information of the
human and mouse genomes projects.