INFRAFRONTIER-EMMA Rare Disease Models Data Resource

INFRAFRONTIER-EMMA Rare Disease Models Data Resource; https://www.infrafrontier.eu/infrafrontier-and-rare-diseases - INFRAFRONTIER is the European Research Infrastructure for phenotyping and archiving of model mammalian genomes. The core services of INFRAFRONTIER comprise the systemic phenotyping of mouse mutants in the participating mouse clinics, and the archiving and distribution of mouse mutant lines by the European Mouse Mutant Archive (EMMA). INFRAFRONTIER aids in rare disease research by providing access to nearly 1700 mouse strains (via EMMA) that are related to over 1300 distinct rare diseases. These mouse strains carry mutations in genes that are implicated in causing rare diseases. In addition, INFRAFRONTIER targets key rare disease communities mainly through the stakeholder meetings, to disseminate information about relevant resources and to obtain feedback about specific community requirements. Relevant references presented at https://www.infrafrontier.eu/rare-disease-publications-and-emma-strains.