C57BL/6JCya-Myh7em1flox/Cya
Common Name:
Myh7-flox
Product ID:
S-CKO-02340
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Myh7-flox
Strain ID
CKOCMP-140781-Myh7-B6J-VA
Gene Name
Product ID
S-CKO-02340
Gene Alias
B-MHC; MYH-beta/slow; MyHC-I; Myhc-b; Myhcb; beta-MHC; betaMHC; myHC-beta; myHC-slow
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
14
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Myh7em1flox/Cya mice (Catalog S-CKO-02340) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000102803
NCBI RefSeq
NM_080728
Target Region
Exon 17~19
Size of Effective Region
~1.6 kb
Detailed Document
Overview of Gene Research
Myh7, encoding the myosin heavy chain (myosin-7), is a sarcomeric gene with fundamental functions in cardiac and skeletal muscle contraction. It is closely related to cardiomyopathy and skeletal muscle myopathy, and its expression is regulated by enhancers [1,6].
Variants in Myh7 are responsible for 1%-5% of dilated cardiomyopathy (DCM) cases. MYH7-related DCM is characterized by early onset, high phenotypic expression, low left-ventricular reverse remodeling, and frequent progression to end-stage heart failure, with heart failure complications being more common than ventricular arrhythmias [2]. In hypertrophic cardiomyopathy, aggregating predicted deleterious missense (pDM) variants in Myh7, rather than predicted loss-of-function (pLOF) variants, shows strong association with the disease [3]. The incomplete-penetrant Myh7 G256E mutation disrupts the transducer region of the S1 head, increases available myosin heads for contraction, leading to hypercontractility and elevated mitochondrial respiration [4]. Transgenic Myh7 R453C piglets develop cardiac hypertrophy, fibrosis, and cardiomyocyte loss, with activation of TGF-β/Smad2/3, ERK1/2 and Nox4/ROS/NF-κB signalling pathways [5]. Recessive Myh7 mutations cause a myopathy with features like infancy/childhood onset, axial/proximal weakness, spinal rigidity, and severe scoliosis [7]. Myh7 variants are also associated with complex congenital heart disease, expanding its phenotypic spectrum [8].
In conclusion, Myh7 is crucial for muscle contraction in the heart and skeletal muscles. Studies, especially those using transgenic models like piglets, have revealed its role in various cardiac and skeletal muscle-related diseases. Understanding Myh7 and its associated variants can provide insights into the mechanisms of these diseases and potentially lead to new therapeutic strategies.
References:
1. Gao, Yuan, Peng, Lu, Zhao, Cuifen. 2023. MYH7 in cardiomyopathy and skeletal muscle myopathy. In Molecular and cellular biochemistry, 479, 393-417. doi:10.1007/s11010-023-04735-x. https://pubmed.ncbi.nlm.nih.gov/37079208/
2. de Frutos, Fernando, Ochoa, Juan Pablo, Navarro-Peñalver, Marina, Elliot, Perry M, Garcia-Pavia, Pablo. 2022. Natural History of MYH7-Related Dilated Cardiomyopathy. In Journal of the American College of Cardiology, 80, 1447-1461. doi:10.1016/j.jacc.2022.07.023. https://pubmed.ncbi.nlm.nih.gov/36007715/
3. Park, Joseph, Packard, Elizabeth A, Levin, Michael G, Ritchie, Marylyn D, Rader, Daniel J. . A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank. In Human molecular genetics, 31, 827-837. doi:10.1093/hmg/ddab249. https://pubmed.ncbi.nlm.nih.gov/34542152/
4. Lee, Soah, Vander Roest, Alison S, Blair, Cheavar A, Spudich, James A, Bernstein, Daniel. 2024. Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration. In Proceedings of the National Academy of Sciences of the United States of America, 121, e2318413121. doi:10.1073/pnas.2318413121. https://pubmed.ncbi.nlm.nih.gov/38683993/
5. Wang, Lingyu, Li, Linquan, Zhao, Dazhong, Lu, Yi, Ouyang, Hongsheng. 2024. MYH7 R453C induced cardiac remodelling via activating TGF-β/Smad2/3, ERK1/2 and Nox4/ROS/NF-κB signalling pathways. In Open biology, 14, 230427. doi:10.1098/rsob.230427. https://pubmed.ncbi.nlm.nih.gov/38862020/
6. Gacita, Anthony M, Fullenkamp, Dominic E, Ohiri, Joyce, Nobrega, Marcelo A, McNally, Elizabeth M. 2021. Genetic Variation in Enhancers Modifies Cardiomyopathy Gene Expression and Progression. In Circulation, 143, 1302-1316. doi:10.1161/CIRCULATIONAHA.120.050432. https://pubmed.ncbi.nlm.nih.gov/33478249/
7. Beecroft, Sarah J, van de Locht, Martijn, de Winter, Josine M, McLean, Catriona A, Jungbluth, Heinz. 2019. Recessive MYH7-related myopathy in two families. In Neuromuscular disorders : NMD, 29, 456-467. doi:10.1016/j.nmd.2019.04.002. https://pubmed.ncbi.nlm.nih.gov/31130376/
8. Ritter, Alyssa, Leonard, Jacqueline, Gray, Christopher, Owens, Anjali, Ahrens-Nicklas, Rebecca C. 2022. MYH7 variants cause complex congenital heart disease. In American journal of medical genetics. Part A, 188, 2772-2776. doi:10.1002/ajmg.a.62766. https://pubmed.ncbi.nlm.nih.gov/35491958/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen