C57BL/6JCya-Actc1em1/Cya
Common Name:
Actc1-KO
Product ID:
S-KO-18714
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Actc1-KO
Strain ID
KOCMP-11464-Actc1-B6J-VA
Gene Name
Product ID
S-KO-18714
Gene Alias
Actc-1
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
2
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Actc1em1/Cya mice (Catalog S-KO-18714) 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, or actin, alpha, cardiac muscle 1, encodes a highly conserved actin that binds to myosin in cardiac and skeletal muscle. It is involved in the contraction of the sarcomere, a fundamental process in muscle function [1,4].
Pathogenic variants in Actc1 have been associated with multiple diseases. In five families, heterozygous missense variants in Actc1 were found to underlie distal arthrogryposis (DA) accompanied by congenital heart defects, suggesting shared functions of Actc1 in cardiac and skeletal muscle [1,4]. Actc1 variants have also been previously linked to atrial septal defect, dilated cardiomyopathy, hypertrophic cardiomyopathy, and left ventricular noncompaction [1,4]. In glioma, higher ACTC1 expression was related to WHO grade, worse overall survival, and increased invasion and recurrence in glioblastoma patients, indicating its potential as a prognostic and invasion marker [2]. In epithelial ovarian cancer, co-overexpression of GRK5/ACTC1 was associated with poor prognosis [3]. A child with an Actc1 gene mutation presented with Prinzmetal angina, left ventricular non-compaction, and decreased systolic function [5].
In conclusion, Actc1 is crucial for muscle contraction in both cardiac and skeletal muscle. Research on Actc1 has revealed its significant associations with various muscle-related and other diseases, such as DA with congenital heart defects, glioma, epithelial ovarian cancer, and Prinzmetal angina. Understanding Actc1's functions through these disease associations can potentially provide insights into disease mechanisms and treatment strategies.
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. 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/
4. 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/
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