INFRAFRONTIER-I3

Development of mouse mutant resources for functional analyses of human diseases - Enhancing the translation of research into innovation

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 Obiettivo del progetto (Objective)

'The mouse shows great similarities in development, physiology and biochemistry to humans, which makes it a key model for research into human disease. The major challenges for mouse functional genomics in the 21st century are to:

• Develop a series of mutant alleles for every gene in the mouse genome • Determine the phenotypic consequences of each mutation • Identify mouse models for the complete disease spectrum in humans

To further develop and exploit the emerging mouse mutant resource, mouse models must be preserved and made available to the European biomedical research community. To this effect, the Infrafrontier-I3 project brings together the leading European centers for systemic phenotyping of mouse mutants and the European Mouse Mutant Archive network. The Infafrontier-I3 partners aim to meet the future challenges presented by phenotyping, archiving and disseminating mouse models in the ERA as follows:

• Contribute to resource development by archiving of 1215 new mouse mutant lines • Provide free of charge Transnational Access to mouse production and 1st line phenotyping capacities • Offer a specialized axenic service to produce, maintain and to distribute germ-free mice • Provide user friendly accession of Infrafrontier services, extensive manual data curation and cross referencing with other mouse database • Improve user services by developing novel phenotyping and cryopreservation SOPs and by refining innovative research instrumentation • Engage with the user community using a wide range of PR activities, a dedicated user meeting and an industry liaison workshop • Offer state of the art cryopreservation and phenotyping training courses • Benchmark Infrafrontier services with other major repositories

The comprehensive physical and data resources that will be generated by Infrafrontier-I3 will contribute to link basic biomedical research to medical applications and thereby drive innovation and support the Europe 2020 Strategy.'

Introduzione (Teaser)

The mouse is similar to humans in terms of development, physiology and its underlying genome. European researchers are developing mouse mutant models to investigate genes implicated in the whole spectrum of human disease.

Descrizione progetto (Article)

To further develop mouse mutant resources, the http://www.infrafrontier.eu (INFRAFRONTIER-I3) (Development of mouse mutant resources for functional analyses of human diseases - Enhancing the translation of research into innovation) project is preserving and supplying mouse models to the relevant European and global research communities. New disease models will be developed, phenotyped and archived and are accessible in the European Research Area (ERA) and beyond.

Aims encompass free-of-charge access to lines and phenotyping as well as provision of germ-free mice. Standard operating procedures (SOPs) for phenotyping and cryopreservation will be innovated and training courses will be offered for these two areas.

The researchers have already made excellent progress. Out of a target of 1 215 mouse mutant models, 812 new lines have been archived into the European Mouse Mutant Archive (EMMA). Strain donations have been made across Europe from a total of 115 institutions, with major contributions from Germany, France and the United Kingdom.

Four new SOPs have been developed along with the publication of three papers on procedure. For biomarker phenotyping, the researchers have developed first assays for pilot trials.

The INFRAFRONTIER-I3 initiative is collaborative and has executed 5 transnational access calls and allocated all 52 user projects for the characterisation of new mouse models of human diseases. These include cancer, motor neuron diseases and type1 diabetes as well as metabolic, liver and mitochondrial diseases.

Already extensive dissemination includes the web portal. Resources and services are being benchmarked and include free archiving of mice in EMMA, a mouse ordering service, and mouse production and phenotyping free of charge for European researchers. There is also a search facility for EMMA strains by type, genes and human diseases.

Up to 40 oral and poster presentations have been delivered at scientific meetings. Training courses are advertised on the project website and five have already taken place.

Ultimately, efforts from the project combined with complementary input will result in a projected total of 5 000 mouse mutant lines being archived in EMMA by 2016. As the majority of these will be phenotyped, this will provide a unique resource that will support European research to delve into molecular mechanisms behind disease and therapeutic solutions. In addition, the INFRAFRONTIER-I3 project will support and interact with global initiatives such as the International Mouse Phenotyping Consortium (IMPC).