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.
Highlights
Modern genome sequencing technology has transformed human molecular genetics
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
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
Summary
Modern genome sequencing technology has transformed human molecular genetics. Exome and whole genome sequence data from patients with diseases of unknown etiology have provided several hundred new candidate genes for many diseases. The phenotypic consequences of all of these mutations in mice are described using the Mammalian Phenotype Ontology (Smith and Eppig 2012) and associated with human disease terms from OMIM (Eppig et al 2015a) to enable consistent searching and data retrieval across all mutation types. MGI currently holds (Table 1) over 43,000 alleles present in mice which have been used to investigate phenotypes and diseases in over 55,600 and 4500 genotypes, respectively These genotypes have contributed to the understanding of phenotype and disease consequences of mutations in over 15,300 and 2000 genetic markers, respectively. These disease, mutation, and phenotype data are fully integrated with all other MGI data including genomic, expression, tumor, and pathway knowledge to enable complex queries across multiple data types
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