Public Release: 

Major European mouse study reveals the role of genes in disease

Helmholtz Zentrum München - German Research Center for Environmental Health

Since mice share 90 percent of our genes they play an important role in understanding human genetics. The European Mouse Disease Clinic (EUMODIC) brought together scientists from across Europe to investigate the functions of 320 genes in mice. Over half of these genes had no previously known role, and the remaining genes were poorly understood.

In order to study gene function, the EUMODIC consortium produced mouse lines which each had a single gene removed. These mouse lines were then analyzed in mouse clinics, where each line was assessed by a series of tests and investigations, allowing to establish the role of the missing genes. Over 80 percent of the mouse lines assessed had a characteristic that provided a clue to what the missing gene's role might be. If the mouse fails a hearing test, for example, it suggests the missing gene has a role in hearing. In total, they carried out over 150 different tests on each mouse line.

EUMODIC was the first step towards the creation of a database of all mouse gene functions, a vision now being realized by the International Mouse Phenotyping* Consortium (IMPC). The IMPC incorporates 20 centers 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.

First author Professor Martin Hrabe de Angelis, Director of Institute of Experimental Genetics at the Helmholtz Zentrum München, who invented the mouse clinic concept, said: "Our findings with regard to the genes examined are now available to the scientific community as a valid data set, which can be downloaded free of charge from the IMPC (International Mouse Phenotyping Consortium) website, and form an excellent basis on which we and other research groups can develop and test new hypotheses." This was the first time such a project has been attempted on this scale with multiple centers cooperating together from different countries. The consortium had to establish new standardized procedures to generate and assess the mouse lines and a central European database to store all the data.

All the findings from the project have been made publically available, allowing other scientists to use it in their own research. This will allow to understand more about genes we currently know very little about, and open up new avenues for research into the genetics of human disease.

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Further information

Background:

* A "phenotype" is the composite of an organism's observable characteristics. It includes not only morphological traits but also physiological properties and behavioral characteristics.

Original publication:

Hrabe de Angelis, M. et al. (2015). Deciphering mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics, Nature Genetics, DOI: 10.1038/ng.3360

Link to the publication: http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3360.html

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 Muenchen has about 2,300 staff members and is headquartered in Neuherberg in the north of Munich. Helmholtz Zentrum München is a member of the Helmholtz Association, a community of 18 scientific-technical and medical-biological research centers with a total of about 37,000 staff members.

The research objective of the Institute of Experimental Genetics (IEG) is to elucidate the causes and pathogenesis of human diseases. Due to its prominent role in interdisciplinary and international consortia, the IEG is a global leader in the systemic study of mouse models for human diseases and the elucidation of involved genes. The main focus is on metabolic diseases such as diabetes. The IEG is part of the Helmholtz Diabetes Center (HDC).

Rising life expectancy is causing an increase in age-related, but also sociological and environmental, influences on the genes. The Institute of Developmental Genetics (IDG) examines these changes in genetic material. In the Mouse Genetics group, genetic animal models are developed to investigate various diseases. These models are analyzed in the Disease Modelling research group in order to identify gene functions and cell processes and evaluate the influence of the environment and aging processes. The group focuses on the examination of neurological and psychiatric diseases.

The Institute of Pathology contributes to the identification and characterization of molecular mechanisms and pathways, which are relevant for disease development and progression. We endeavor to understand the interplay between environment and genetic, and to identify novel targets for therapeutic intervention.

The Comprehensive Pneumology Center (CPC) is a joint research project of the Helmholtz Zentrum München, the Ludwig-Maximilians-Universität Clinic Complex and the Asklepios Fachkliniken Muenchen-Gauting. The CPC's objective is to conduct research on chronic lung diseases in order to develop new diagnosis and therapy strategies. The CPC maintains a focus on experimental pneumology with the investigation of cellular, molecular and immunological mechanisms involved in lung diseases. The CPC is a site of the Deutsches Zentrum für Lungenforschung (DZL).

Contact for the media:

Department of Communication, Helmholtz Zentrum München - German Research Center for Environmental Health (GmbH), Ingolstädter Landstr. 1, 85764 Neuherberg - Phone: +49 89 3187 2238 - Fax: +49 89 3187 3324 - E-mail: presse@helmholtz-muenchen.de

Scientific contact at Helmholtz Zentrum München:

Prof. Dr. Martin Hrabe de Angelis, Helmholtz Zentrum München - German Research Center for Environmental Health (GmbH), Institute of Experimental Genetics, Ingolstädter Landstr. 1, 85764 Neuherberg - Phone: +49 89 3187 3502 - E-mail: hrabe@helmholtz-muenchen.de

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