C57BL/6JCya-Actc1em1flox/Cya
Common Name:
Actc1-flox
Product ID:
S-CKO-00998
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Actc1-flox
Strain ID
CKOCMP-11464-Actc1-B6J-VA
Gene Name
Product ID
S-CKO-00998
Gene Alias
Actc-1
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
2
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Actc1em1flox/Cya mice (Catalog S-CKO-00998) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000090269
NCBI RefSeq
NM_009608
Target Region
Exon 3
Size of Effective Region
~1.3 kb
Detailed Document
Overview of Gene Research
Actc1, also known as actin, alpha, cardiac muscle 1, encodes a highly conserved actin. It binds to myosin in cardiac and skeletal muscle, playing a crucial role in the contraction of the human sarcomere [1,3]. The interactions it is involved in are fundamental to muscle function, and understanding its function can be enhanced through genetic models like KO or CKO mouse models.
Pathogenic variants in Actc1 have been associated with various cardiac and skeletal muscle diseases. It has been found to underlie atrial septal defect, dilated cardiomyopathy, hypertrophic cardiomyopathy, left ventricular non-compaction, and a new form of distal arthrogryposis accompanied by congenital heart defects [1,3]. In a case report, a 2-year-old with an Actc1 gene mutation presented with Prinzmetal angina and associated left ventricular non-compaction [5]. Also, in glioma, Actc1 may serve as a novel independent prognostic and invasion marker, with its expression increasing according to WHO grade and being related to survival and tumor invasion [2]. In epithelial ovarian cancer, the co-overexpression of GRK5 and Actc1 is an independent prognostic biomarker [4].
In conclusion, Actc1 is essential for muscle contraction in both cardiac and skeletal muscles. Its role in various disease conditions such as congenital heart defects, certain cardiomyopathies, and in some types of cancers has been revealed through clinical and genetic studies. These findings from different research contribute to understanding the biological functions of Actc1 and may provide insights for disease diagnosis, prognosis, and treatment.
References:
1. Chong, Jessica X, Childers, Matthew Carter, Marvin, Colby T, Regnier, Michael, Bamshad, Michael J. 2023. Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects. In HGG advances, 4, 100213. doi:10.1016/j.xhgg.2023.100213. https://pubmed.ncbi.nlm.nih.gov/37457373/
2. Ohtaki, Shunya, Wanibuchi, Masahiko, Kataoka-Sasaki, Yuko, Kocsis, Jeffery D, Honmou, Osamu. 2016. ACTC1 as an invasion and prognosis marker in glioma. In Journal of neurosurgery, 126, 467-475. doi:10.3171/2016.1.JNS152075. https://pubmed.ncbi.nlm.nih.gov/27081897/
3. Chong, Jessica X, Childers, Matthew Carter, Marvin, Colby T, Regnier, Michael, Bamshad, Michael J. 2023. Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects. In medRxiv : the preprint server for health sciences, , . doi:10.1101/2023.03.07.23286862. https://pubmed.ncbi.nlm.nih.gov/36945405/
4. Liu, Longyang, Lv, Jin, Lin, Zhongqiu, Liu, Ping, Chen, Chunlin. 2022. Co-Overexpression of GRK5/ACTC1 Correlates With the Clinical Parameters and Poor Prognosis of Epithelial Ovarian Cancer. In Frontiers in molecular biosciences, 8, 785922. doi:10.3389/fmolb.2021.785922. https://pubmed.ncbi.nlm.nih.gov/35223984/
5. Mattia, Donald, Matney, Chelsea, Zangwill, Steven, Rhee, Edward, Knoll, Christopher. 2023. Prinzmetal angina in a child with actin gene ACTC1 mutation. In Cardiology in the young, 33, 2440-2442. doi:10.1017/S1047951123002640. https://pubmed.ncbi.nlm.nih.gov/37489518/
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