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A mouse informatics platform for phenotypic and translational discovery.

Natalie Ring1, Terrence F Meehan2, Andrew Blake1

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This summary is machine-generated.

The International Mouse Phenotyping Consortium (IMPC) is creating a functional genome catalog using knockout mice. Their informatics platform manages and shares this complex data, aiding disease research.

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Area of Science:

  • Genomics
  • Mammalian genetics
  • Bioinformatics

Background:

  • The International Mouse Phenotyping Consortium (IMPC) aims to functionally characterize every gene in the mammalian genome.
  • A comprehensive informatics platform is crucial for managing, analyzing, and disseminating the vast amounts of data generated.
  • The project involves phenotyping thousands of new knockout mouse strains.

Purpose of the Study:

  • To describe the development and evolution of the IMPC's informatics platform.
  • To highlight the platform's capabilities in data exploration, visualization, and dissemination.
  • To emphasize its role in identifying mouse models for human diseases and understanding dysmorphologies.

Main Methods:

  • Systematic characterization of knockout mouse strains for each gene.
  • Development of a robust, structured informatics platform for data collation and analysis.
  • Implementation of an intuitive user interface with data visualization tools and dedicated disease pages.

Main Results:

  • The informatics platform successfully supports the initial phase of broad phenotyping for 5000 knockout strains.
  • The platform facilitates data exploration, phenotype assertion, and identification of disease models.
  • High-resolution image viewers provide detailed morphological data.

Conclusions:

  • The IMPC informatics platform is a dynamic resource that evolves with increasing data complexity and user needs.
  • It serves as a primary access point for IMPC data, supporting both clinical and non-clinical research.
  • The platform is invaluable for advancing functional genomics and disease modeling.