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Servicing the European Biomedical Research Community: Archiving and Dissemination of Mouse Models of Human Disease

Final Report Summary - EMMASERVICE (Servicing the European Biomedical Research Community: Archiving and Dissemination of Mouse Models of Human Disease)

Executive Summary:
To exploit the emerging mouse mutant resources, mouse models must be preserved and made available to the European biomedical research community. Building on EMMA's previous achievements as the primary mouse repository in Europe, EMMAservice met the challenges presented by archiving and disseminating mouse models in the European Research Area as follows:
Focus of the EMMAservice project was WP4, offering a free of charge cryopreservation service. A total of 1224 mouse mutant lines were submitted to the EMMA repository out of which 1094 were fully archived and publicly available by the end of the project. Strain donations were made across Europe with major contributions from UK, France and Germany. Mouse mutant lines were donated by a total of 250 different depositors. A further focus of the EMMAservice research activities was technology development (WP5) which underpinned the EMMA cryopreservation service by refining existing EMMA sperm freezing technologies. Following discussions with collaborators in Japan, plus further development work in the laboratory we were able to establish a robust sperm freeze/recovery protocol that works extremely well on sperm harvested from inbred strains of mice. The efficacy of this technique has been demonstrated by several partners within the EMMA network and across the most common genetic backgrounds. This protocol is now presented on the EMMA website and available to the community. Furthermore, Laser IVF was firmly established within the EMMA consortium as a robust recovery technique and a protocol was uploaded onto the EMMA website. We have also made good progress with ICSI and were able to generate ICSI derived embryos using sperm and oocytes from several different strains of mice (CD-1, B6D2 and C3H). Finally, the transportation of unfrozen embryos will simplify the exchange of mouse stocks between laboratories. In keeping with this idea, we have demonstrated that frozen/thawed 2-cell embryos from several different strains (C3H, C57BL/6 & 129) will resume in vitro development after being held at 8°C for 72hrs. We now believe that we have defined the optimum conditions for transporting unfrozen embryos.
Free of charge access to EMMA mouse mutant resources was facilitated by the Transnational Access (TA) activity (WP3). A total of 15 TA calls were published on the EMMA website. In response to the calls a total of 311 genuine TA applications were submitted out of which 23 were rejected and 288 accepted. TA applications were submitted from 23 different countries with most applications being from Germany, France and the UK. In general, the EMMA distribution continues to grow. A total of 550 strain requests were received in 2012 adding to a total number of 2814 orders by the end of EMMAservice. The EMMA germ-free service (WP7) offered by the Gulbenkian Institute (Portugal) is a unique service not provided by other major repositories. The Gulbenkian fulfilled a total of 14 service requests by the end of EMMAservice.
WP6 coordinates the EMMA informatics activities such as database development and integration with other resources, web interface development and database curation. EMMAservice involved considerable development of the database schema and the database population mechanisms as well as extensive data curation. During the project a total of 1942 strains had their gene/allele and strain names/symbols manually reviewed and curated. New releases covered Spring internal interfaces, new searching and strain description pages and a new statistics/reporting package, which is key to control the progress of the EMMA archiving activities and to underpin further process improvements. Regarding data integration a BioMart search was set up that allows that EMMA data are accessible by multiple resources. Furthermore, links were set up to phenotype data of EMMA stocked mouse resources available at the Europhenome database or at the Sanger Mouse Portal. Finally, information available from MGI on human disease associations to mouse models were integrated into EMMA allowing the searching of EMMA mice by associated diseases.
Outreach efforts of WP2 focused on attracting new EMMA users by presenting the EMMA activities at 16 major mouse genetics meetings. Overall, EMMA PR activities covered a total of 115 presentations at scientific and science policy meetings and in addition publications and advertisements. The existing know-how and cryopreservation expertise was transferred to the community via a total of 16 training courses for 104 students and by a dedicated cryopreservation workshop.
The comprehensive and unique physical and data resources of EMMA will support biomedical research in Europe by offering the opportunity to decipher molecular disease mechanisms and aiding the development of therapeutic strategies. Thus, EMMA will play a critical role in ensuring Europe maintains its leading role in the development of resources and knowledge of medically relevant mouse models by providing a user driven, sustainable platform offering access to unparalleled services and physical as well as data resources.

Project Context and Objectives:
Note: Final report submitted as one single document containing 4.1 and 4.2
Project Results:
Note: Final report submitted as one single document containing 4.1 and 4.2
Potential Impact:
Note: Final report submitted as one single document containing 4.1 and 4.2
List of Websites:
Note: Final report submitted as one single document containing 4.1 and 4.2
final1-emmaservice-final-report-mh-08082013.pdf