Mybpc3-KO Mouse
Product Name
Mybpc3-KO Mouse
Product ID
C001609
Strain Name
C57BL/6JCya-Mybpc3em1/Cya
Backgroud
C57BL/6JCya
Status
When using this mouse strain in a publication, please cite “Mybpc3-KO Mouse (Catalog C001609) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Gene Name
Mybpc3
Gene Alias
--
NCBI ID
Chromosome
Chr 2 (Mouse)
MGI ID
Datasheet
Strain Description
The MYBPC3 gene encodes the cardiac isoform of myosin-binding protein C, which is exclusively expressed in cardiac muscle. 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. The model exhibited increased left ventricular mass and prolonged isovolumic relaxation time (IVRT), with a trend toward enlarged cardiomyocyte cross-sectional area and increased cardiac fibrosis. Meanwhile, left ventricular ejection fraction (LVEF) and fractional shortening (LVFS) showed a decreasing trend compared to controls. This model is used to research the pathogenic mechanisms of hypertrophic cardiomyopathy (HCM) and develop related therapeutic strategies.
Reference
Marian AJ, Braunwald E. Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. Circ Res. 2017 Sep 15;121(7):749-770.
Tudurachi BS, Zăvoi A, Leonte A, Țăpoi L, Ureche C, Bîrgoan SG, Chiuariu T, Anghel L, Radu R, Sascău RA, Stătescu C. An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy. Int J Mol Sci. 2023 Jun 22;24(13):10510.
Harris SP, Bartley CR, Hacker TA, McDonald KS, Douglas PS, Greaser ML, Powers PA, Moss RL. Hypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice. Circ Res. 2002 Mar 22;90(5):594-601.
Bennett JS, Wood PT, Dominic KL, Moravec CS, Campbell KS, Stelzer JE. Functional Analysis of a Homozygous MYBPC3 Null Allele in Human Pediatric Patients. Circ Res. 2025 Oct 10;137(9):1226-1228.
Greer-Short A, Greenwood A, Leon EC, Qureshi TN, von Kraut K, Wong J, Tsui JH, Reid CA, Cheng Z, Easter E, Yang J, Ho J, Steltzer S, Budan A, Cho M, Chandrakumar R, Cisne-Thompson O, Feathers C, Chung TW, Rodriguez N, Jones S, Alleyne-Levy C, Liu J, Jing F, Prince WS, Lin J, Ivey KN, Tingley WG, Hoey T, Lombardi LM. AAV9-mediated MYBPC3 gene therapy with optimized expression cassette enhances cardiac function and survival in MYBPC3 cardiomyopathy models. Nat Commun. 2025 Mar 4;16(1):2196.
Barefield D, Kumar M, de Tombe PP, Sadayappan S. Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy. Am J Physiol Heart Circ Physiol. 2014 Mar;306(6):H807-15.
Strain Strategy
The mouse Mybpc3 gene in mice consists of 35 exons, with the start codon in exon 1 and the stop codon in exon 34. This strain was created by gene-editing techniques that knocked out the region spanning exons 2~22.
Figure 1. Diagram of the gene editing strategy for the generation of Mybpc3-KO mice.
Application Area
Studies of myocardial contraction mechanisms and cardiac function;
Research on hypertrophic cardiomyopathy (HCM) pathogenesis and therapeutic drug evaluation;
Investigations into dilated cardiomyopathy (DCM) and other cardiomyopathies.
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