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In-vitro Mutagenesis

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.

Exon Recombination

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon has three reading...

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Related Experiment Video

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Mutation discovery in mice by whole exome sequencing.

Heather Fairfield¹, Griffith J Gilbert, Mary Barter

¹The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA.

|September 16, 2011

Summary

We developed a new method for capturing the mouse exome, enabling robust whole exome sequencing. This approach effectively identifies genetic mutations across diverse mouse strains, aiding in the discovery of disease models.

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Area of Science:

Genomics
Mouse models
Genetic mutation discovery

Background:

Whole exome sequencing (WES) is a powerful tool for identifying genetic variations.
Developing efficient methods for exome capture is crucial for WES applications.
Mouse models are essential for studying human diseases and genetic disorders.

Purpose of the Study:

To develop and optimize reagents for in-solution, hybridization-based capture of the mouse exome.
To validate the robustness of whole exome sequencing for mutation discovery across different mouse strains.
To identify candidate mutations in novel mutant mouse strains.

Main Methods:

Development of optimized reagents for in-solution hybridization-based exome capture.
Application of whole exome sequencing to multiple inbred and novel mutant mouse strains.
Bioinformatic analysis to identify putative mutations.

Main Results:

Successful development and optimization of mouse exome capture reagents.
Demonstration of whole exome sequencing as a robust method for mutation discovery across diverse genetic backgrounds.
Identification of strong candidate mutations in the majority of sequenced mutant exomes.
Discovery of new mouse models for orofacial clefting, urogenital dysmorphology, kyphosis, and autoimmune hepatitis.

Conclusions:

The developed in-solution exome capture method is effective for mouse WES.
Whole exome sequencing is a reliable approach for identifying genetic mutations in various mouse strains.
This methodology facilitates the discovery of novel genetic mutations and the creation of valuable disease models.