International Mouse Phenotyping Consortium

International Mouse Phenotyping Consortium

September 29, 2011 16:00 ET

Library of Gene Function Will Speed Up Disease Research

MUNICH, GERMANY--(Marketwire - Sept. 29, 2011) - An international project to create one of the largest libraries of mammalian genetic function data is to be launched on 29th September 2011.

The International Mouse Phenotyping Consortium (IMPC) is building a library of mammalian gene function which will describe the function of every gene in the mouse genome. Around 99 per cent of the genes in a mouse have an equivalent gene in humans. By understanding the function of all the genes within the mouse, scientists can improve their understanding of the role that genes play in human diseases such as heart disease and diabetes.

The IMPC programme will allow researchers from across the world to easily access all of the resources and information created by the programme on 'knockout mice' – that is, mice in which scientists have inactivated (or 'knocked out') a gene ( in order to discover what that gene does. This will substantially shorten the time between basic research and clinical application. Dr Mark Moore, IMPC Executive Director, explains: "We want to characterise each line of mice broadly with no assumptions about what the gene may be doing."

"If you think of the function of a gene as a needle in a haystack, we're removing the haystack so scientists can see what the needle does," he added.

The IMPC is a worldwide consortium comprising fifteen research institutions along with national funders from six countries, including the Medical Research Council (MRC) Harwell (UK), the National Institutes of Health (US), the Wellcome Trust (UK), the Wellcome Trust Sanger Institute and EMBL-European Bioinformatics Institute in Hinxton (UK), Helmholtz Zentrum München, German Mouse Clinic (Germany), Toronto Centre for Phenogenomics (Canada), Institute Clinique de la Souris (France), Australian Phenomics Network (Australia), RIKEN BioResource Centre (Japan), CNR Monterotondo (Italy), Baylor College of Medicine (US), University of California Davis (US), Charles River Laboratories (US), Children's Hospital Oakland Research Institute (US), the Jackson Laboratory (US), Genome Canada (Canada), and MARC - Nanjing University (China). This strong international partnership hopes to increase its membership as the programme moves forward.

"Our drive is to understand the role of genes in disease and use that understanding to improve healthcare," explains Dr Bill Skarnes, Senior Investigator at the Wellcome Trust Sanger Institute. "The cells and DNA resources we have developed for IMPC have already proved their value in identifying genes involved in a form of anaemia. The integrated resources delivered by IMPC will make a real difference to researchers' work around the world."

Funding has been awarded to members of the consortium by a number of national funding agencies. Recently, several members of the consortium have been awarded US $110m over five years by the NIH to work on the project; which includes the Knockout Mouse Phenotyping Project 2 (KOMP2) and MP12 (see note below.) The first phase of this ten-year project will knock out 5000 mouse genes and describe their physical characteristics or phenotypes.

Each mutant will pass through a series of examinations similar to the examinations patients might experience at a doctor's surgery or in hospital to diagnose their condition. All members of the IMPC will use standard agreed procedures to perform the biological investigations and the data will be deposited in a single international database. The set of tests is designed to give information on human disease, such as heart disease, diabetes, and deafness, and the results will determine if that gene has a part to play in those diseases. The mice and the data generated from them will be freely available to the scientific community.

Dr Francis Collins, Director of the NIH, says: "The addition of detailed clinical information for each knockout mouse line will be a boon to disease researchers who want to determine the function of genes and improve mouse models of human disease."

Professor Steve Brown, Director of MRC Harwell and Chair of the IMPC Steering Committee says: "The launch of the IMPC represents an outstanding example of international cooperation in the biomedical sciences. IMPC is an unprecedented and unique international biological research endeavor that brings together diverse expertise and facilities to tackle the enormous challenges of understanding the relationship between gene and disease. This latest funding boost from NIH along with the funding available from other funding agencies means the first phase of the project is on track."

Professor Martin Hrabé de Angelis of Helmholtz Zentrum München and coordinator of Infrafrontier, a world class pan European research consortium for systemic phenotyping and archiving of mouse models, says: "This is an outstanding and unique opportunity to leverage existing know how and infrastructures in different continents by running a so far unmatched global programme to unravel gene functions of human diseases."

Data generated by the IMPC will be used by pharmaceutical and biotechnology companies to speed-up the development pipeline of new drugs. Dr Tom Weaver, Director of the MRC Mary Lyon Centre which is one of the IMPC production and phenotyping centres, explains: "There are literally hundreds if not thousands of drug targets that have yet to be discovered. The application of mouse genetics in combination with phenotypic analysis is recognized as an essential method for identifying and validating drug targets and drugable pathways. They will serve as tools to understand the mechanisms of action of drugs in vivo, and efficacy testing prior to expensive clinical trials."

Underpinning the IMPC project has been a lengthy period of planning and technical preparations. A fundamental component of this has been the planning for a data coordination centre (DCC) which will allow unrestricted public access to IMPC data. Dr Ann-Marie Mallon, Head of Informatics at MRC Harwell explained "We are committed to make data from IMPC public in an accurate, timely, and intuitive manner to ensure any institution or researcher around the world can access this data and the genetically modified mice".

Dr Paul Flicek, of EMBL-EBI, added: "The open resources created by IMPC will be integrated with many other molecular databases at EMBL-EBI and elsewhere, and benefit from advanced search functionality. This will ensure that researchers can make use of detailed data and high-level summaries of mouse phenotypes and other relevant biological information - for example human disease associations - well into the future."

Notes to editors:

- For more information on the IMPC go to

- The IMPC is building on the successful and ground-breaking EUMODIC project (funded by the European Commission under grant LSHG-CT-2006-037188) which developed the SOPs and IT systems needed to store the vast amounts of data generated and piloted the production and phenotyping of the mice. IMPC is therefore building upon years of planning and technical preparation.

- The NIH KOMP2 production and phenotyping awards: each group will receive a total of approximately $34m and is expected to produce and phenotype 833 strains of knockout mice over 5 years. Recipients of the awards are:

  • Baylor College of Medicine in Houston. This center will collaborate with the Wellcome Trust Sanger Institute in Hinxton, England and the Medical Research Council Harwell in Oxfordshire, England

  • University of California Davis. This center will collaborate with the Toronto Centre for Phenogenomics in Canada, Children's Hospital Oakland Research Institute in California, and Charles River Laboratories in Wilmington, Mass.

  • The Jackson Laboratory in Bar Harbor, Maine

- The DCC award (called MPI2): NIH awarded another five-year cooperative agreement totalling $10m to the European Bioinformatics Institute and The Wellcome Trust Sanger Institute, UK and MRC Harwell, UK.

- For almost 100 years the Medical Research Council has improved the health of people in the UK and around the world by supporting the highest quality science. The MRC invests in world-class scientists. It has produced 29 Nobel Prize winners and sustains a flourishing environment for internationally recognised research. The MRC focuses on making an impact and provides the financial muscle and scientific expertise behind medical breakthroughs, including one of the first antibiotics penicillin, the structure of DNA and the lethal link between smoking and cancer. Today MRC funded scientists tackle research into the major health challenges of the 21st century.

- The European Bioinformatics Institute (EBI, is part of the European Molecular Biology Laboratory (EMBL, and is located on the Wellcome Trust Genome Campus in Hinxton near Cambridge (UK). The EBI grew out of EMBL's pioneering work in providing public biological databases to the research community. It hosts some of the world's most important collections of biological data, including DNA sequences (ENA), protein sequences (UniProt), animal genomes (Ensembl), 3D structures (the Protein Databank in Europe), data from gene expression experiments (ArrayExpress), protein-protein interactions (IntAct) and pathway information (Reactome). The EBI hosts several research groups and its scientists continually develop new tools for the biocomputing community. EMBL-EBI is coordinating ELIXIR (, a pan-European research infrastructure for biological information.

- The Wellcome Trust is a global charitable foundation dedicated to achieving extraordinary improvements in human and animal health. It supports the brightest minds in biomedical research and the medical humanities. The Trust's breadth of support includes public engagement, education and the application of research to improve health. It is independent of both political and commercial interests.

- For more information on Infrafrontier go to Infrafrontier will serve as platform were parts of the IMPC project will be performed.

- As German Research Center for Environmental Health, Helmholtz Zentrum München pursues the goal of developing personalized medical approaches for the prevention and therapy of major common diseases such as diabetes mellitus and lung diseases. To achieve this, it investigates the interaction of genetics, environmental factors and lifestyle. The Helmholtz Zentrum München has about 1,900 staff members and is headquartered in Neuherberg in the north of Munich on a 50-hectare research campus. Helmholtz Zentrum München is a member of the Helmholtz Association, a community of 17 scientific-technical and medical-biological research centers with a total of about 31,000 staff members.

- The Institut Clinique de la Souris (ICS, Head Y. Herault) was set up in 2001 to boost the mouse research in France. Now founder of PHENOMIN, the national infrastructure for Health and Biology, laureate of the Investment for the future in France, with the Intragene Resource Center (IRC/TAAM, Head Y. Herault) in Orleans and the Centre for Immunophenomics in Marseille (CIPHE, Head B. Malissen), the ICS-promoted PHENOMIN infrastructure will contribute to the IMPC initiative inside the European INFRAFRONTIER network to establish a new reference in mammalian genetics and in phenogenomics.

- Baylor College of Medicine is a research-intensive institution that has led the way in genetics, genomics and development of animal models of disease. BCM pioneered the technology of knockout mice and currently focuses on genetics and genomics as they relate to the understanding of human disease. The Baylor Human Genome Sequencing Center is among the top three such resources in the nation, chosen to finish the sequencing of the human genome and taking the lead in projects that include The Cancer Genome Atlas, the 1,000 Genomes Project and the sequencing of several model animal genomes. Its Department of Molecular and Human Genetics is ranked second nationally in federal funding and its Department of Molecular and Cellular Biology is ranked third nationally. BCM opened its doors in 1900 and is the top private institution of medical and biomedical education in the U.S. Southwest. The state-of-the-art mouse facilities at BCM are among the largest in the world, and the program is fully accredited by the Association for Assessment and Accreditation of Laboratory Animal Care International (AAALAC).

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