huMYBPC3 Mouse
제품명
huMYBPC3 Mouse
제품 ID
C001987
품종 계통
C57BL/6JCya-Mybpc3tm1(hMYBPC3)/Cya
Backgroud
C57BL/6JCya
상태
이 마우스 계통을 논문에서 사용할 경우, “huMYBPC3 Mouse (카탈로그 번호 C001987)은 Cyagen에서 구입하였습니다.”라고 명시해 주시기 바랍니다.
구매 가능한 제품 종류
연령
Genotype
성별
수량
유전자명
유전자 별칭
FHC, CMH4, CMD1MM, LVNC10, MYBP-C, cMyBP-C
NCBI ID
염색체
Chr 11
MGI ID
Datasheet
품종 계통 설명
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.
Reference
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.
변형 전략
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.
응용 분야
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.
문의하기
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