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Related Concept Videos

In-vitro Mutagenesis01:16

In-vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.

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Large-scale mouse knockouts and phenotypes.

Ramiro Ramírez-Solis1, Edward Ryder, Richard Houghton

  • 1Mouse Pipelines, Wellcome Trust Sanger Institute, Hinxton, UK. rrs@sanger.ac.uk

Wiley Interdisciplinary Reviews. Systems Biology and Medicine
|August 18, 2012
PubMed
Summary
This summary is machine-generated.

Standardized analysis of mouse gene mutants offers key insights into mammalian gene function, advancing health. This large-scale, coordinated effort requires global collaboration for efficient data generation and dissemination.

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Area of Science:

  • Genetics
  • Genomics
  • Mammalian Biology

Background:

  • The sequencing of the human and mouse genomes provides a foundation for understanding gene function.
  • Advances in embryonic stem cell mutagenesis and standardized phenotypic analysis pipelines make large-scale mutant generation feasible.
  • Industrialization of these processes enables a systematic approach to genome-wide functional annotation.

Purpose of the Study:

  • To systematically analyze the phenotypic consequences of mutations across the entire mouse genome.
  • To generate comprehensive functional annotation of mammalian genes.
  • To advance understanding of mammalian gene function and its impact on human and animal health.

Main Methods:

  • Generation of mutant mouse strains for every gene in the mouse genome.
  • Standardized, high-throughput phenotypic analysis pipelines for primary characterization.
  • Global coordination for efficient resource generation and data sharing.
  • Development of novel phenotypic analysis modalities.

Main Results:

  • Creation of a comprehensive resource of mouse mutants and their associated phenotypes.
  • Identification of novel genotype-phenotype relationships.
  • Discovery of new models for human and animal diseases.
  • Potential identification of new drug targets with unique mechanisms of action.

Conclusions:

  • Genome-wide phenotypic analysis of mouse mutants is a realistic and achievable goal with significant implications for biology and medicine.
  • Global collaboration and efficient dissemination of data and resources are crucial for the success of this endeavor.
  • This initiative promises to yield fundamental insights into gene function, disease mechanisms, and therapeutic strategies.