Exceptional mice, extraordinary insights
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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.
Exceptional mice, extraordinary insights
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.
New mutant mice are made available to the scientific community once they have been characterized and described in journal publications. Over 700 established mutant stocks are maintained in the Mouse Mutant Resource, and 90-100 new mutations are at various stages of characterization.
We use exome sequencing to characterize spontaneous mutation mice, and were the first to publish this approach for the discovery of mutations in the mouse genome. To maximize the usefulness of our sequencing data, we developed an analysis pipeline and genetic variant database. The database currently houses over 4 million single nucleotide variants and small insertions or deletions, and provides a strain variation dataset of unprecedented breadth.
Mice with newly identified spontaneous mutations undergo genetic, genomic and phenotypic characterization to evaluate and develop their value as resources for ongoing biomedical research. Each new mutant strain is characterized genetically, genomically and phenotypically.
Recently characterized mutants provide promising disease models for autoimmune and dermatologic conditions, as well as dental and skin diseases.