C57BL/6JCya-Stac3em1/Cya
Common Name:
Stac3-KO
Product ID:
S-KO-18330
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Stac3-KO
Strain ID
KOCMP-237611-Stac3-B6J-VA
Gene Name
Product ID
S-KO-18330
Gene Alias
9830125E18
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
10
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Stac3em1/Cya mice (Catalog S-KO-18330) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000035839
NCBI RefSeq
NM_177707
Target Region
Exon 2~5
Size of Effective Region
~1.7 kb
Detailed Document
Overview of Gene Research
STAC3, a gene encoding a small adapter protein, is essential for excitation-contraction (EC) coupling in skeletal muscles. It functions as a key component in this process, interacting with the voltage-sensor CaV1.1, and is involved in regulating calcium-related signaling pathways [2,4,6]. Its role in muscle development and function makes it biologically significant, and genetic models can provide insights into its functions.
In terms of disease-related findings, STAC3 has been associated with congenital myopathies. A homozygous missense variant (c.851G > C; p.Trp284Ser) in STAC3 is linked to Bailey-Bloch congenital myopathy, also known as Native American myopathy (NAM), which is characterized by congenital weakness, arthrogryposis, cleft palate, and other symptoms [1]. This variant has been identified in non-Native American patients as well, such as those from the Comoros Islands and Southern African patients with congenital hypotonia [1,3]. In addition, in vitro experiments on C2C12 myoblasts and Stac3 knockout mouse embryos suggest that Stac3 inhibits myoblast differentiation into myotubes, which may be important for proper skeletal muscle development [5].
In conclusion, STAC3 is crucial for skeletal muscle EC coupling and muscle development. Research using genetic models, especially knockout mouse models, has revealed its role in congenital myopathies and myoblast differentiation. Understanding STAC3's functions provides insights into the mechanisms of muscle-related diseases and muscle development processes.
References:
1. Gromand, Marie, Gueguen, Paul, Pervillé, Anne, Alessandri, Jean-Luc, Robin, Stéphanie. 2022. STAC3 related congenital myopathy: A case series of seven Comorian patients. In European journal of medical genetics, 65, 104598. doi:10.1016/j.ejmg.2022.104598. https://pubmed.ncbi.nlm.nih.gov/36030003/
2. Tuinte, Wietske E, Török, Enikő, Mahlknecht, Irene, Flucher, Bernhard E, Campiglio, Marta. 2022. STAC3 determines the slow activation kinetics of CaV 1.1 currents and inhibits its voltage-dependent inactivation. In Journal of cellular physiology, 237, 4197-4214. doi:10.1002/jcp.30870. https://pubmed.ncbi.nlm.nih.gov/36161458/
3. Essop, Fahmida, Dillon, Bronwyn, Mhlongo, Felicity, Urban, Michael, Krause, Amanda. 2024. STAC3 disorder: a common cause of congenital hypotonia in Southern African patients. In European journal of human genetics : EJHG, 33, 14-23. doi:10.1038/s41431-024-01644-5. https://pubmed.ncbi.nlm.nih.gov/38824262/
4. Campiglio, Marta, Kaplan, Mehmet M, Flucher, Bernhard E. 2018. STAC3 incorporation into skeletal muscle triads occurs independent of the dihydropyridine receptor. In Journal of cellular physiology, 233, 9045-9051. doi:10.1002/jcp.26767. https://pubmed.ncbi.nlm.nih.gov/30071129/
5. Ge, Xiaomei, Zhang, Yafei, Park, Sungwon, Gerrard, David E, Jiang, Honglin. 2014. Stac3 inhibits myoblast differentiation into myotubes. In PloS one, 9, e95926. doi:10.1371/journal.pone.0095926. https://pubmed.ncbi.nlm.nih.gov/24788338/
6. Campiglio, Marta, Flucher, Bernhard E. 2017. STAC3 stably interacts through its C1 domain with CaV1.1 in skeletal muscle triads. In Scientific reports, 7, 41003. doi:10.1038/srep41003. https://pubmed.ncbi.nlm.nih.gov/28112192/
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