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

DOI:
10.3791/63949-v

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03:45 min

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August 08, 2022

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, , , , , , , , ,
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

Chapitres

  • 00:04Introduction
  • 00:35Evaluation of the Cardiac Morphology and Function
  • 01:54Results: Validating the Pathogenicity of G823E Mutation Using the C57BL/6N Murine Model
  • 03:17Conclusion

Summary

Traduction automatique

Traduction automatique

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.

Tags

Familial Hypertrophic CardiomyopathyMYH7 MutationGly823GluMouse ModelUltrasoundEchocardiographyCardiac HypertrophySanger SequencingGenetic Etiology

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