High resolution genetic maps have been constructed for many regions of the mouse genome and form the basis for the ongoing physical mapping of mouse chromosomes. Comparison of mouse and human genetic maps allows us to identify linkage groups that are conserved between the two organisms, and these have become a powerful tool for the development of mouse models of human genetic disease. Recent advances include the identification of mouse models for human genetic deafness, neural crest defects and X-linked immunodeficiencies.