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Mouse mutants and phenotypes: accessing information for the study of mammalian gene function
Martin Ringwald1, Janan T Eppig
1The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA. ringwald@informatics.jax.org
Methods (San Diego, Calif.)
|December 28, 2010
Summary
New methods facilitate access to mutant mouse models and ES cells for studying gene function and human diseases. Researchers can quickly find available genetic resources and phenotypic data for disease research.
Area of Science:
- Genetics and Genomics
- Mammalian Genetics
- Disease Modeling
Background:
- High-throughput gene targeting and conditional mutagenesis are rapidly advancing the study of mammalian gene function.
- Mutant mouse models and embryonic stem (ES) cells are crucial for investigating genetic mutations and their phenotypic consequences.
- Classical genetics approaches are increasingly effective for identifying mouse mutations linked to specific phenotypes.
Purpose of the Study:
- To describe efficient methods for accessing available mutant ES cells and mice.
- To provide guidance on obtaining recombinase driver lines for conditional mutant generation.
- To outline strategies for accessing genetic and phenotypic data to identify mouse models for human diseases.
Main Methods:
- Utilizing databases and resources for identifying available mutant ES cells and mice.
- Employing strategies to find recombinase driver lines for conditional mutagenesis.
- Accessing genetic and phenotypic databases for human disease model identification.
Main Results:
- Established efficient methods for information retrieval on mutant ES cells and mice.
- Identified key resources for recombinase driver lines.
- Demonstrated effective means to access data linking mouse models to human diseases.
Conclusions:
- Accelerated access to mutant mouse resources aids in understanding gene function in vivo.
- These methods support the rapid development of mouse models for human disease research.
- The described approaches enhance the utility of the mouse as a model organism for genetic studies.
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