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Conventional point mutation mouse model

1.Definition

A mouse model with one or multiple point mutations introduced into the target gene. The point mutation mouse model expresses the mutated protein or functional region, and no longer expresses the wild type protein or the functional region, while the protein's expression profile of the protein remains unchanged.

2.Advantages and disadvantages

Advantages: the mouse mutation gene's expression is regulated by the wildtype gene's regulation region. The point mutation is a functional gene knockout method, and can avoid the complex phenotype of conventional knockout models, such as problems with signal pathways and cross reactions, etc.

Disadvantages: the expression level and gene's expression profile of the gene must be confirmed to be unaffected . The constitutive point mutation may be deadly, so an induced point mutation or conditional point mutation may need to be used.

3. Principle

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4.Application

Introduce gene mutation

Protein function region inactivation (catalytic site and enzyme binding site)

The point mutation model has many potential applications, including the study of causal relationship between a mutation and some human diseases


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