huMYBPC3 Mouse
製品名
huMYBPC3 Mouse
製品ID
C001987
系統名
C57BL/6JCya-Mybpc3tm1(hMYBPC3)/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、「huMYBPC3 Mouse（カタログ番号C001987）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
FHC, CMH4, CMD1MM, LVNC10, MYBP-C, cMyBP-C
NCBI ID
染色体
Chr 11
MGI ID
さらに
系統詳細
MYBPC3 (myosin-binding protein C3) is a cardiac sarcomere-associated protein encoded by the MYBPC3 gene and serves as a key structural and functional regulator of cardiac contraction [1]. In normal tissues, MYBPC3 is predominantly expressed in the heart, where it plays critical roles in cardiac muscle contraction, sarcomere assembly, and heart rate regulation. Dysfunction of this protein is closely associated with various cardiomyopathies. Mutations in MYBPC3 represent one of the most common genetic causes of familial hypertrophic cardiomyopathy (HCM), with the majority being truncating mutations that lead to haploinsufficiency. These mutations can result in cardiac hypertrophy, fibrosis, arrhythmias, heart failure, and an increased risk of sudden cardiac death [2-3]. In addition, MYBPC3 variants are also associated with dilated cardiomyopathy (DCM) and other forms of cardiomyopathy [4].
The huMYBPC3 mouse is a humanized model generated by replacing the sequence from the start codon to the 3'UTR in the murine Mybpc3 gene with the corresponding sequence of human MYBPC3. This model is suitable for evaluating the in vivo efficacy and safety of MYBPC3-targeted therapeutics, including gene therapies (such as AAV-mediated delivery), small-molecule drugs, and gene editing therapies. Furthermore, it is applicable to research on the pathogenesis of hypertrophic cardiomyopathy (HCM) and other MYBPC3-related cardiomyopathies, as well as studies on cardiac function, sarcomere structure, and combination therapy strategies.
参考文献
Zou X, Ouyang H, Lin F, Zhang H, Yang Y, Pang D, Han R, Tang X. MYBPC3 deficiency in cardiac fibroblasts drives their activation and contributes to fibrosis. Cell Death Dis. 2022 Nov 10;13(11):948.
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.
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.
Lu Y, Wang Z, Zhang S, Liu Y, Jin Y, Tian Z, Zhang S. Genetic landscape of hereditary cardiomyopathies and arrhythmias in China. J Genet Genomics. 2025 Jul 11:S1673-8527(25)00200-0.
系統作製戦略
The sequences from the start codon to the 3'UTR of the endogenous mouse Mybpc3 gene were replaced with the sequences from the start codon to the 3'UTR of the human MYBPC3 gene.
Figure 1. Gene editing strategy for huMYBPC3 mice.
適用分野
Development and screening of MYBPC3-targeted therapies;
Investigation of pathogenic mechanisms and therapeutic strategies for MYBPC3-related cardiomyopathies, including hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM);
In vivo efficacy evaluation of sarcomere modulators, calcium sensitizer antagonists, and other small molecules or biologics for improving cardiac function;
Monitoring plasma MYBPC3 fragments, NT-proBNP, and other biomarkers to establish systems for disease progression and therapeutic efficacy assessment;
Assessment of systemic toxicity and immunogenicity of long-term cardiac-targeted administration and gene editing strategies.
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