Mybpc3-KO Mouse
製品名
Mybpc3-KO Mouse
製品ID
C001609
系統名
C57BL/6JCya-Mybpc3em1/Cya
背景情報
C57BL/6JCya
状況
このマウス系統を論文で使用する場合は、「Mybpc3-KO Mouse（カタログ番号C001609）はサイアジェンから購入しました。」と引用してください。
製品タイプ
年齢
遺伝子型
性別
数量
遺伝子名
遺伝子別名
--
NCBI ID
染色体
Chr 2
MGI ID
さらに
系統詳細
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.
参考文献
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.
系統作製戦略
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.
適用分野
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.cardiomyopathies.
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