C57BL/6JCya-Myh2em1flox/Cya
Common Name:
Myh2-flox
Product ID:
S-CKO-03855
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Myh2-flox
Strain ID
CKOCMP-17882-Myh2-B6J-VA
Gene Name
Product ID
S-CKO-03855
Gene Alias
MHC2A; MyHC-IIa; Myh2a; Myhs-f; Myhs-f1; Myhsf1
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
11
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Myh2em1flox/Cya mice (Catalog S-CKO-03855) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000170159
NCBI RefSeq
NM_001039545
Target Region
Exon 5
Size of Effective Region
~1.0 kb
Detailed Document
Overview of Gene Research
Myh2 encodes MyHCIIa, a myosin heavy chain found in fast type 2A fibers. It plays a crucial role in muscle function and is involved in muscle-related biological processes. Genetic models, such as gene knockout (KO) or conditional knockout (CKO) mouse models, can be valuable for studying its functions [1,3,4].
Pathogenic variants in MYH2 have been implicated in various myopathies. In an autosomal-dominant inheritance pattern, a novel splice-site variant MYH2 c.5673 + 1G>C was detected in a family with a slowly progressive, predominantly proximal myopathy, and this variant affects splicing, resulting in novel transcripts [1]. MYH2 myopathy can present with features like chronic progressive external ophthalmoplegia (CPEO), muscle weakness, esophageal reflux, proptosis, and characteristic muscle MRI findings, and is associated with novel mutations [2]. Recessive MYH2 mutations can lead to early-onset myopathy with complete loss of type 2A fibers, while some cases with recessive genotypes may present with phenotypes typical of dominant forms [3]. Neonates with MYH2 myopathy may show hypotonia, dysphagia, dysmorphic features, and specific muscle biopsy findings [4]. An adult patient with MYH2-myopathy due to two heterozygous pathogenic variants presented a novel myopathological phenotype including filamentous tangles with nemaline rods [5].
In conclusion, Myh2 is essential for normal muscle function. Studies using genetic models, although not explicitly detailed in the provided references, could potentially further clarify its role. The identification of MYH2-related myopathies and their associated mutations from the references contributes to understanding the molecular mechanisms of these muscle-related diseases, which may aid in the development of diagnostic and treatment strategies for myopathies.
References:
1. Cassini, Thomas A, Malicdan, May Christine V, Macnamara, Ellen F, Gahl, William A, Toro, Camilo. 2022. MYH2-associated myopathy caused by a novel splice-site variant. In Neuromuscular disorders : NMD, 33, 257-262. doi:10.1016/j.nmd.2022.12.014. https://pubmed.ncbi.nlm.nih.gov/36774715/
2. Baskar, Dipti, Vengalil, Seena, Nashi, Saraswati, Arunachal, Gautham, Nalini, Atchayaram. . MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO). In Journal of neuromuscular diseases, 10, 727-730. doi:10.3233/JND-230017. https://pubmed.ncbi.nlm.nih.gov/37154181/
3. Telese, Roberta, Pagliarani, Serena, Lerario, Alberto, Sciacco, Monica, Peverelli, Lorenzo. 2020. MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form. In Molecular genetics & genomic medicine, 8, e1320. doi:10.1002/mgg3.1320. https://pubmed.ncbi.nlm.nih.gov/32578970/
4. Oatmen, K, Camelo-Piragua, S, Zaghloul, N. . Novel mutation in the MYH2 gene in a symptomatic neonate with a hereditary myosin myopathy. In Journal of neonatal-perinatal medicine, 15, 63-68. doi:10.3233/NPM-210780. https://pubmed.ncbi.nlm.nih.gov/34459418/
5. Madigan, Nicolas N, Polzin, Michael J, Cui, Gaofeng, Mer, Georges, Milone, Margherita. 2021. Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype. In Acta neuropathologica communications, 9, 79. doi:10.1186/s40478-021-01168-9. https://pubmed.ncbi.nlm.nih.gov/33926564/
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