Point Mutation

  • Conventional Point Mutation
  • Conditional Point Mutation

Conventional point mutation

Hypertrophic cardiomyopathy (HCM) mouse model

A mouse model carrying the H530R PRKAG2 mutation was constructed using Cas9 technology. The mutant mice exhibit human symptoms, including myocardial hypertrophy and glycogen storage.

Conditional point mutation

Combining point mutations (human disease candidate point mutations) with the Cre-LoxP system, introduced into the corresponding position of the homologous gene in mice, allows for tissue-specific point mutations.

Spontaneous lung cancer model

By crossing Kras-(LSL-G12D) mice with Scgb1a1-CreERT2 mice, Scgb1a1 bronchiole-specific point mutation mice are obtained, constructing a spontaneous lung cancer model.

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