C57BL/6JCya-Scnn1aem1flox/Cya
Common Name:
Scnn1a-flox
Product ID:
S-CKO-17705
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Scnn1a-flox
Strain ID
CKOCMP-20276-Scnn1a-B6J-VC
Gene Name
Product ID
S-CKO-17705
Gene Alias
ENaC; SCNEA; Scnn1; mENaC
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
6
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Scnn1aem1flox/Cya mice (Catalog S-CKO-17705) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000081440
NCBI RefSeq
NM_011324
Target Region
Exon 2
Size of Effective Region
~0.8 kb
Detailed Document
Overview of Gene Research
Scnn1a, which encodes the α -subunit of the epithelial sodium channel (α -ENaC), plays a crucial role in regulating sodium absorption in epithelial tissues, such as those in the kidney, lung, and colon. This process is essential for maintaining fluid and electrolyte balance, blood pressure regulation, and normal organ function [2,5,6]. Dysregulation of Scnn1a can disrupt these physiological processes, leading to various health issues.
In terms of disease associations, mutations in Scnn1a can cause Liddle syndrome, an autosomal-dominant monogenic disease characterized by early-onset hypertension, hypokalaemia, and metabolic alkalosis [2]. Additionally, Scnn1a has been implicated in several cancers. In ovarian cancer, its overexpression is correlated with poor prognosis and immune cell infiltration, and it may play a role in cell growth, invasion, and migration through regulating epithelial-mesenchymal transformation [1,4]. In pancreatic cancer, Scnn1a overexpression is associated with TP53 mutation and unfavorable prognosis, and it exerts oncogenic functions by accelerating cellular growth and metastasis [3]. In triple-negative breast cancer, high Scnn1a expression is associated with poor prognosis and non-pathological complete response status following neoadjuvant chemotherapy [9]. A novel mutation in Scnn1a has also been found in a patient with autosomal-recessive pseudohypoaldosteronism type 1 [5], and SNPs in Scnn1a may be associated with neonatal respiratory distress syndrome, particularly in term infants [8]. miR-95 promotes osteosarcoma growth by targeting Scnn1a [7].
In conclusion, Scnn1a is vital for maintaining fluid and electrolyte balance through its role in sodium absorption. Its dysregulation, whether through mutation or altered expression, is associated with various diseases, including monogenic hypertension, pseudohypoaldosteronism, neonatal respiratory distress syndrome, and multiple types of cancer. Understanding the function of Scnn1a through genetic models could potentially lead to better diagnostic and therapeutic strategies for these conditions.
References:
1. Lou, Jiayan, Wei, Lingjia, Wang, He. 2022. SCNN1A Overexpression Correlates with Poor Prognosis and Immune Infiltrates in Ovarian Cancer. In International journal of general medicine, 15, 1743-1763. doi:10.2147/IJGM.S351976. https://pubmed.ncbi.nlm.nih.gov/35221714/
2. Tian, Jiajia, Xiang, Fei, Wang, Liandi, Ma, Li, Fang, Chuwen. 2024. Liddle Syndrome with a SCNN1A Mutation: A Case Report and Literature Review. In Kidney & blood pressure research, 49, 831-838. doi:10.1159/000540522. https://pubmed.ncbi.nlm.nih.gov/39236685/
3. Gao, Feng, Wang, Dan, Liu, Xun, Wang, Huai-Tao, Sun, Shao-Long. 2022. Sodium channel 1 subunit alpha SCNN1A exerts oncogenic function in pancreatic cancer via accelerating cellular growth and metastasis. In Archives of biochemistry and biophysics, 727, 109323. doi:10.1016/j.abb.2022.109323. https://pubmed.ncbi.nlm.nih.gov/35714697/
4. Wu, Lan, Ling, Zhong-Hui, Wang, Huan, Wang, Xin-Yan, Gui, Jing. 2019. Upregulation of SCNN1A Promotes Cell Proliferation, Migration, and Predicts Poor Prognosis in Ovarian Cancer Through Regulating Epithelial-Mesenchymal Transformation. In Cancer biotherapy & radiopharmaceuticals, 34, 642-649. doi:10.1089/cbr.2019.2824. https://pubmed.ncbi.nlm.nih.gov/31549859/
5. Huneif, Mohammed Ayed, Alhazmy, Ziyad Hamad, Shoomi, Anas M., Mushiba, Aziza M., AlSaheel, Abdulhamid. 2021. A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1. In Journal of clinical research in pediatric endocrinology, 14, 244-250. doi:10.4274/jcrpe.galenos.2021.2020.0175. https://pubmed.ncbi.nlm.nih.gov/33829730/
6. Serra, Gregorio, Antona, Vincenzo, D'Alessandro, Maria Michela, Verde, Vincenzo, Corsello, Giovanni. 2021. Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town. In Italian journal of pediatrics, 47, 138. doi:10.1186/s13052-021-01080-x. https://pubmed.ncbi.nlm.nih.gov/34134742/
7. Geng, Yannan, Zhao, Shaorong, Jia, Yutao, Zhang, Quan, Tian, Rong. 2020. miR‑95 promotes osteosarcoma growth by targeting SCNN1A. In Oncology reports, 43, 1429-1436. doi:10.3892/or.2020.7514. https://pubmed.ncbi.nlm.nih.gov/32323794/
8. Li, Wang, Long, Chen, Renjun, Li, Juan, Ma, Yuan, Shi. 2015. Association of SCNN1A Single Nucleotide Polymorphisms with neonatal respiratory distress syndrome. In Scientific reports, 5, 17317. doi:10.1038/srep17317. https://pubmed.ncbi.nlm.nih.gov/26611714/
9. Jin, Xin, Ge, Yue, Sun, Tongjun, Zhang, Ligong, Qian, Jun. 2025. SCNN1A expression in triple-negative breast cancer: clinical implications for prognosis and neoadjuvant therapy response. In World journal of surgical oncology, 23, 169. doi:10.1186/s12957-025-03698-1. https://pubmed.ncbi.nlm.nih.gov/40287704/
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