Exceptional mice, extraordinary insights
Mice harboring spontaneous mutations have long been a major source for animal models of human genetic disorders, but until recently the process of identifying causative mutations has been time-consuming, labor-intensive and costly. Now, high-throughput DNA sequencing technologies have revolutionized mutation detection, greatly reducing the time, effort and expense associated with disease-gene identification. We are using these technologies to study rare phenotypic deviant mice that arise spontaneously within the Laboratory's numerous large mouse colonies.
By identifying causative mutations and associated genes that underlie rare phenotypic anomalies, we are able to further annotate the mammalian genome, assigning physiological functions to genes for which no role has previously been identified. In the process we identify parallels to orthologous rare human genetic diseases, creating animal models to facilitate the investigation of disease mechanisms and possible therapies.
We characterize mice carrying spontaneous genetic mutations genetically, genomically and phenotypically prior to making them available to researchers. The Mouse Mutant Resource (MMR) encourages the use of these unique disease models, maintaining and distributing mutant strains and associated information to the scientific community.