The mouse genome database: genotypes, phenotypes, and models of human disease

Abstract

The laboratory mouse is the premier animal model for studying human biology because all life stages can be accessed experimentally, a completely sequenced reference genome is publicly available and there exists a myriad of genomic tools for comparative and experimental research. In the current era of genome scale, data-driven biomedical research, the integration of genetic, genomic and biological data are essential for realizing the full potential of the mouse as an experimental model. The Mouse Genome Database (MGD; http://www.informatics.jax.org), the community model organism database for the laboratory mouse, is designed to facilitate the use of the laboratory mouse as a model system for understanding human biology and disease. To achieve this goal, MGD integrates genetic and genomic data related to the functional and phenotypic characterization of mouse genes and alleles and serves as a comprehensive catalog for mouse models of human disease. Recent enhancements to MGD include the addition of human ortholog details to mouse Gene Detail pages, the inclusion of microRNA knockouts to MGD's catalog of alleles and phenotypes, the addition of video clips to phenotype images, providing access to genotype and phenotype data associated with quantitative trait loci (QTL) and improvements to the layout and display of Gene Ontology annotations.

Figure 1.

Screenshots showing the new Human Ortholog and Phenotypic Alleles sections of the MGD Gene Detail page. (A) The SPATA16 gene in humans is associated with a human disease entry in the Online Mendelian Inheritance in Man database, whereas alleles of the orthologous mouse gene have yet to be phenotyped to determine if mutations in the mouse gene result in a good model of the human disease. (B) The CAV1 gene in humans is associated with congenital lipodystrophy, but the available mouse genotypes have not been associated with this disease. Phenotypic alleles of the Cav1 gene in mouse have been reported for models of human diseases (breast cancer and Alzheimer’s disease) that are not associated with the human ortholog. (C) The BICC1 gene in human has not yet been reported as being associated with any human disease, whereas the mouse ortholog has been reported to model several human diseases.

Figure 2.

Screenshot showing the link to phenotype images, including a video clip, in the Alleles and Phenotypes section of the Gene Detail page for the Bicc1 gene.

Figure 3.

Screenshot showing the new Gene Ontology annotation display in MGD.