Mybpc3-KO Mouse

The MYBPC3 gene encodes the cardiac isoform of myosin-binding protein C. MYBPC3 is a critical regulator of cardiac contraction, and mutations in this gene are a common cause of hypertrophic cardiomyopathy (HCM). HCM is the most prevalent inherited cardiomyopathy worldwide, following an autosomal dominant inheritance pattern. This condition is marked by unexplained left ventricular hypertrophy, a non-dilated left ventricle with preserved or increased ejection fraction, and myocardial disarray along with interstitial fibrosis. Left ventricular diastolic dysfunction is also common. HCM is a leading cause of sudden cardiac death, particularly in adolescents and young adults ^[1-2]. Research indicates that Mybpc3 homozygous knockout mice exhibit pronounced cardiac hypertrophy and diastolic dysfunction ^[3]. These mice serve as a platform for studying the mechanisms and developing therapeutic approaches for familial hypertrophic cardiomyopathy (FHC).

The Mybpc3-KO mouse is a gene knockout model created using gene-editing techniques to knock out the coding sequence of the Mybpc3 gene (the homolog of the human MYBPC3 gene) in mice. This model is used to research the pathogenic mechanisms of hypertrophic cardiomyopathy (HCM) and develop related therapeutic strategies.