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Genetics

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

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

Article DOI: 10.3791/63949-v • 03:45 min • August 8th, 2022
August 8th, 2022 •
*1,2, *3, 4, 4, 1,2, 1,2, 1,2, 2,5, 4, 1,2
1Department of Cardiovascular Surgery, Guangdong Provincial Hospital of Traditional Chinese Medicine, the Second Affiliated Hospital of Guangzhou University of Chinese Medicine, 2The Second Clinical College of Guangzhou University of Chinese Medicine, 3Department of Cardiovascular Surgery, The First Affiliated Hospital, Jinan University, 4Guangdong Provincial Key Laboratory of Laboratory Animals, Guangdong Laboratory Animals Monitoring Institute, 5Department of Anesthesiology, Guangdong Provincial Hospital of Chinese Medicine, the Second Affiliated Hospital of Guangzhou University of Chinese Medicine
* These authors contributed equally

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résumé
Automatic Translation

Based on the familial hereditary cardiomyopathy family found in our clinical work, we created a C57BL/6N mouse model with a point mutation (G823E) at the mouse MYH7 locus through CRISPR/Cas9-mediated genome engineering to verify this mutation.

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Keywords: Familial Hypertrophic Cardiomyopathy MYH7 Mutation Gly823Glu Mouse Model Ultrasound Echocardiography Cardiac Hypertrophy Sanger Sequencing Genetic Etiology
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