C57BL/6NCya-Atp1a1em1flox/Cya
Common Name:
Atp1a1-flox
Product ID:
S-CKO-19631
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Atp1a1-flox
Strain ID
CKOCMP-11928-Atp1a1-B6N-VA
Gene Name
Product ID
S-CKO-19631
Gene Alias
Atpa-1
Background
C57BL/6NCya
NCBI ID
Modification
Conditional knockout
Chromosome
3
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Atp1a1em1flox/Cya mice (Catalog S-CKO-19631) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000036493
NCBI RefSeq
NM_144900
Target Region
Exon 10
Size of Effective Region
~1.1 kb
Detailed Document
Overview of Gene Research
Atp1a1, encoding the α1 subunit of the Na + /K + -ATPase (NKA), is a crucial gene. The heterodimeric NKA enzyme hydrolyzes ATP to establish transmembrane electrochemical gradients of Na + and K +, which are essential for electrical signaling and cell survival. The α1 isoform is ubiquitously expressed and is the predominant paralog in peripheral axons [4,5].
In aldosterone-producing adenomas (APAs), the ATP1A1 L104R mutation leads to increased Na/K-ATPase (NKA) expressions, stimulating cell proliferation and Src phosphorylation. NKA stimulations might be a risk factor for the development of ATP1A1 mutant APA [1].
In intermediate Charcot-Marie-Tooth (CMT) disease, two novel missense mutations in ATP1A1 were identified, leading to loss-of-function of the ATP1A1 protein by promoting its proteasome degradation [2]. A recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism, with significantly reduced cell viability and loss of ATPase function [3].
Heterozygous Atp1a1 +/- knockout mice were phenotypically normal up to 18 months of age, suggesting that a malfunctioning gene product is required for disease induction by ATP1A1 variants [4,5].
In conclusion, Atp1a1 is essential for maintaining transmembrane electrochemical gradients through the function of NKA. Studies using gene knockout models, like the Atp1a1 +/- knockout mice, have provided insights into its role in diseases such as APAs, CMT, and neurodevelopmental disorders, helping to understand the mechanisms of disease occurrence related to Atp1a1 malfunction.
References:
1. Kobuke, Kazuhiro, Oki, Kenji, Gomez-Sanchez, Celso E, Hattori, Noboru, Yoneda, Masayasu. 2021. ATP1A1 Mutant in Aldosterone-Producing Adenoma Leads to Cell Proliferation. In International journal of molecular sciences, 22, . doi:10.3390/ijms222010981. https://pubmed.ncbi.nlm.nih.gov/34681640/
2. He, Jin, Guo, Lingling, Lin, Shan, Wang, Ning, Chen, Wanjin. 2019. ATP1A1 mutations cause intermediate Charcot-Marie-Tooth disease. In Human mutation, 40, 2334-2343. doi:10.1002/humu.23886. https://pubmed.ncbi.nlm.nih.gov/31373411/
3. Dohrn, Maike F, Bademci, Guney, Rebelo, Adriana P, Tekin, Mustafa, Züchner, Stephan. 2024. Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism. In Annals of clinical and translational neurology, 11, 1075-1079. doi:10.1002/acn3.51963. https://pubmed.ncbi.nlm.nih.gov/38504481/
4. Spontarelli, Kerri, Young, Victoria C, Sweazey, Ryan, Yano, Sho T, Artigas, Pablo. 2023. ATP1A1 -linked diseases require a malfunctioning protein product from one allele. In bioRxiv : the preprint server for biology, , . doi:10.1101/2023.03.05.531165. https://pubmed.ncbi.nlm.nih.gov/37090550/
5. Spontarelli, Kerri, Young, Victoria C, Sweazey, Ryan, Yano, Sho T, Artigas, Pablo. 2023. ATP1A1-linked diseases require a malfunctioning protein product from one allele. In Biochimica et biophysica acta. Molecular cell research, 1871, 119572. doi:10.1016/j.bbamcr.2023.119572. https://pubmed.ncbi.nlm.nih.gov/37659504/
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