As a first step towards a comprehensive functional annotation of the mouse genome, EUMODIC undertook a primary phenotype assessment of 500 mouse mutant lines. In addition, a number of these mutant lines were subjected to a more in depth secondary phenotype assessment. The EUMODIC consortium was made up of 18 laboratories across Europe who are experts in the field of mouse functional genomics and phenotyping and have a track record of successful collaborative research in the EC-funded EUMORPHIA project.
EUMODIC was the first step towards the creation of a database of all mouse gene functions, a vision now being realised by the International Mouse Phenotyping Consortium (IMPC). IMPC incorporates 16 centres from across the globe with the aim over the next ten years of uncovering the role of all 20,000 genes in the mouse genome. IMPC builds on the groundwork and achievements of EUMODIC in establishing the procedures and processes to identify and catalogue the function of genes
The EUMODIC consortium built on the work in the EUMORPHIA project that delivered a comprehensive database – EMPReSS – of Standard Operating Procedures (SOPs) that can be used to determine the phenotype of a mouse. EUMODIC developed a selection of these screens, EMPReSSslim, which is structured for comprehensive, primary, high throughput phenotyping of large numbers of mice. We also adopted innovative approaches to the generation and assessment of cohorts of age-matched mutants and controls for phenotyping.
Primary phenotype assessment using EMPReSSslim was undertaken in four large-scale phenotyping centres at the HMGU, Germany; ICS, France; MRC Harwell, UK and the Sanger Institute, UK. This primary phenotyping data was then be made publicly available on EuroPhenome http://www.europhenome.org/ Further phenotyping is being undertaken by the International Mouse Phenotyping Consortium – http://www.mousephenotype.org. Mutant lines were made available from another EU initiative, the EUCOMM (European Conditional Mouse Mutagenesis) project which aims to produce conditional mutations in 12,000 mouse genes. EUMODIC used these ES cells in the null configuration.
A distributed network of centres with in depth expertise in a number of phenotyping domains took more complex, secondary phenotyping screens and applied them to a subset of the mice which showed interesting phenotypes in the primary screen. The partners also developed technologies to refine EMPReSSslim and improve throughput of mouse phenotyping. A key element was the development of bioinformatics resources to store the phenotype information and link them to existing database resources. Overall, EUMODIC was a first step towards tackling the need for large-scale phenotyping in the mouse and the comprehensive study of mammalian gene function and its role in disease.
The EUMODIC project was funded by the European Commission under the Framework 6 Programme contract number LSHG-CT-2006-037188