C57BL/6JCya-Acta1em1/Cya
Common Name
Acta1-KO
Product ID
S-KO-00868
Backgroud
C57BL/6JCya
Strain ID
KOCMP-11459-Acta1-B6J-VA
When using this mouse strain in a publication, please cite “Acta1-KO Mouse (Catalog S-KO-00868) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Basic Information
Strain Name
Acta1-KO
Strain ID
KOCMP-11459-Acta1-B6J-VA
Gene Name
Product ID
S-KO-00868
Gene Alias
Acta-2, Acts, Actsk-1
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr 8
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000034453
NCBI RefSeq
NM_009606
Target Region
Exon 2~7
Size of Effective Region
~3.4 kb
Overview of Gene Research
ACTA1, encoding skeletal muscle alpha-actin, forms the core of the sarcomeric thin filament in adult skeletal muscle. It is one of six highly conserved actin proteins associated with human disease [1].
Mutations in ACTA1 are a significant genetic cause of nemaline myopathy, with the vast majority (74%) of ACTA1 variants causing this disorder. However, an increasing number of variants are also linked to cardiomyopathy and novel phenotypes like distal myopathy [1]. In an in vitro model of nemaline myopathy using iPSC-derived skeletal myocytes with an ACTA1 H40Y point mutation, mitochondrial dysfunction and oxidative stress were observed as disease phenotypes, though nemaline rods were absent [2]. Clinically, the number of reported ACTA1-related disease phenotypes has grown from five to 20, and there seems to be a correlation between clinical/histological presentations and mutation positions in ACTA1-related nemaline myopathy [1,3].
In summary, ACTA1 is crucial for the normal assembly and function of the thin filament in skeletal muscle. Studies, including in vitro models, have revealed its role in muscle-related disorders such as nemaline myopathy and cardiomyopathy. Understanding ACTA1 through these research models is key to deciphering the mechanisms of these diseases and potentially developing targeted therapies.
References:
1. Clayton, Joshua S, Johari, Mridul, Taylor, Rhonda L, Ravenscroft, Gianina, Laing, Nigel G. 2024. An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene. In Human mutation, 2024, 6496088. doi:10.1155/2024/6496088. https://pubmed.ncbi.nlm.nih.gov/40225930/
2. Gartz, Melanie, Haberman, Margaret, Sutton, Jessica, Mack, David L, Lawlor, Michael W. 2023. ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of nemaline myopathy. In Experimental cell research, 424, 113507. doi:10.1016/j.yexcr.2023.113507. https://pubmed.ncbi.nlm.nih.gov/36796746/
3. Moreno, Cristiane de Araújo Martins, Abath Neto, Osório, Donkervoort, Sandra, Bönnemann, Carsten, Zanoteli, Edmar. 2017. Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature. In Pediatric neurology, 75, 11-16. doi:10.1016/j.pediatrneurol.2017.04.002. https://pubmed.ncbi.nlm.nih.gov/28780987/
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
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