title: Allele, phenotype and disease data at Mouse Genome Informatics: improving access and analysis.
abstract: A core part of the Mouse Genome Informatics (MGI) resource is the collection of mouse mutations and the annotation phenotypes and diseases displayed by mice carrying these mutations. These data are integrated with the rest of data in MGI and exported to numerous other resources. The use of mouse phenotype data to drive translational research into human disease has expanded rapidly with the improvements in sequencing technology. MGI has implemented many improvements in allele and phenotype data annotation, search, and display to facilitate access to these data through multiple avenues. For example, the description of alleles has been modified to include more detailed categories of allele attributes. This allows improved discrimination between mutation types. Further, connections have been created between mutations involving multiple genes and each of the genes overlapping the mutation. This allows users to readily find all mutations affecting a gene and see all genes affected by a mutation. In a similar manner, the genes expressed by transgenic or knock-in alleles are now connected to these alleles. The advanced search forms and public reports have been updated to take advantage of these improvements. These search forms and reports are used by an expanding number of researchers to identify novel human disease genes and mouse models of human disease.
authors.affiliation: Mouse Genome Informatics, The Jackson Laboratory, Bar Harbor, ME, 04609, USA, susan.bello@jax.org.
authors.forename: Susan M
authors.initials: SM
authors.lastname: Bello
authors.forename: Cynthia L
authors.initials: CL
authors.lastname: Smith
authors.forename: Janan T
authors.initials: JT
authors.lastname: Eppig
mesh_terms: D000483:Alleles; D000818:Animals; D030541:Databases, Genetic; D004195:Disease Models, Animal; D016678:Genome; D023281:Genomics / Q000379:methods* / Q000639:trends; D005838:Genotype; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D058977:Molecular Sequence Annotation; D016297:Mutagenesis, Site-Directed; D009154:Mutation; D010641:Phenotype; D012984:Software; D057170:Translational Research, Biomedical