Atp13a4-flox 基因敲除小鼠

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产品名称

Atp13a4-flox 基因敲除小鼠

产品编号

S-CKO-06702

品系全称

C57BL/6JCya-Atp13a4em1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-224079-Atp13a4-B6J-VA

品系状态

使用本品系发表的文献需注明: Atp13a4-flox 基因敲除小鼠 mice (Strain S-CKO-06702) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量
cKO小鼠库模型

基本信息

基因研究概述

质控标准

基因
基因全称
ATPase type 13A4
基因别称
4631413J11Rik,4832416L12,9330174J19Rik
染色体号
Chr 16 (Mouse)
转录本 ID
NCBI: NM_001164612.1 | Ensembl: ENSMUST00000182627
修饰方式
条件性基因敲除
靶向范围
Exon 11~12
敲除长度
~1333 bp
品系说明
该品系是基于策略设计时的数据库信息制作而成,建议您在购买前查询最新的数据库和相关文献,以获取最准确的表型信息。
表型提示
ATP13A4是一种重要的P5型ATP酶,属于P5B亚家族,主要参与阳离子的转运。ATP13A4的表达在多种人类疾病中发生改变,包括癌症、神经发育障碍和精神疾病。ATP13A4在乳腺癌细胞系MCF7中的表达上调,导致多胺转运系统的增强,从而增加细胞内多胺水平,促进乳腺癌细胞的生长和增殖[1]。此外,ATP13A4的表达在精神分裂症患者的前脑区域中显著升高,提示其可能参与了精神分裂症的病理生理过程[2]。ATP13A4的突变也与语言障碍相关,如儿童言语运动障碍(CAS)和特定语言障碍(SLI),提示其可能在言语和语言发展过程中发挥重要作用[3]。

在肺癌中,ATP13A4-AS1基因的表达水平与肺癌的进展和预后相关,可能成为肺癌诊断和治疗的新靶点[4]。在阿尔茨海默病(AD)中,ATP13A4的表达升高,并且与AD的免疫炎症反应和神经炎症过程相关,提示其可能参与了AD的发病机制[5]。在肾脏镁转运中,ATP13A4的功能尚不明确,需要进一步的研究来证实其是否具有镁转运功能[6]。

ATP13A2是ATP13A4的同源基因,两者在结构上相似,但在功能上存在差异。ATP13A2与帕金森病相关,而ATP13A4与自闭症谱系障碍相关,提示P5B亚家族成员在神经系统中可能具有不同的功能和作用[7]。ATP13A4和ATP13A2的表达在儿童言语运动障碍(CAS)患者中升高,提示其可能参与了CAS的发病机制[8]。

此外,ATP13A4的表达在婴幼儿血管瘤(IH)中升高,并且与IH的免疫炎症反应相关,提示其可能参与了IH的发病机制[10]。此外,ATP13A4的表达在3T3-L1前脂肪细胞中升高,并且与肥胖的发生相关,提示其可能参与了肥胖的发生机制[9]。

综上所述,ATP13A4是一种重要的P5型ATP酶,参与阳离子的转运和细胞内多胺水平的调节。ATP13A4的表达在多种人类疾病中发生改变,包括癌症、神经发育障碍和精神疾病。ATP13A4的功能和作用机制需要进一步的研究来阐明,以便为其在疾病治疗中的应用提供理论基础。

参考文献:
1. van Veen, Sarah, Kourti, Antria, Ausloos, Elke, Eggermont, Jan, Vangheluwe, Peter. 2023. ATP13A4 Upregulation Drives the Elevated Polyamine Transport System in the Breast Cancer Cell Line MCF7. In Biomolecules, 13, . doi:10.3390/biom13060918. https://pubmed.ncbi.nlm.nih.gov/37371498/
2. Gibbons, Andrew S, Bell, Laura M, Udawela, Madhara, Dean, Brian. 2019. mRNA expression of the P5 ATPase ATP13A4 is increased in Broca's area from subjects with schizophrenia. In The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry, 21, 402-408. doi:10.1080/15622975.2018.1548781. https://pubmed.ncbi.nlm.nih.gov/30501451/
3. Kwasnicka-Crawford, Dorota A, Carson, Andrew R, Roberts, Wendy, Järvelä, Irma, Scherer, Stephen W. . Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay. In Genomics, 86, 182-94. doi:. https://pubmed.ncbi.nlm.nih.gov/15925480/
4. Zhou, You, Xu, Bin, Zhou, Yi, Huang, Tao, Jiang, Jingting. 2021. Identification of Key Genes With Differential Correlations in Lung Adenocarcinoma. In Frontiers in cell and developmental biology, 9, 675438. doi:10.3389/fcell.2021.675438. https://pubmed.ncbi.nlm.nih.gov/34026765/
5. Guo, Yan, Zhao, Tingru, Chu, Xi, Cheng, Zhenyun. 2023. Development of a diagnostic and risk prediction model for Alzheimer's disease through integration of single-cell and bulk transcriptomic analysis of glutamine metabolism. In Frontiers in aging neuroscience, 15, 1275793. doi:10.3389/fnagi.2023.1275793. https://pubmed.ncbi.nlm.nih.gov/38020758/
6. Schäffers, Olivier J M, Hoenderop, Joost G J, Bindels, René J M, de Baaij, Jeroen H F. 2018. The rise and fall of novel renal magnesium transporters. In American journal of physiology. Renal physiology, 314, F1027-F1033. doi:10.1152/ajprenal.00634.2017. https://pubmed.ncbi.nlm.nih.gov/29412701/
7. Sørensen, Danny Mollerup, Holemans, Tine, van Veen, Sarah, Palmgren, Michael, Vangheluwe, Peter. 2018. Parkinson disease related ATP13A2 evolved early in animal evolution. In PloS one, 13, e0193228. doi:10.1371/journal.pone.0193228. https://pubmed.ncbi.nlm.nih.gov/29505581/
8. Worthey, Elizabeth A, Raca, Gordana, Laffin, Jennifer J, Strand, Edythe A, Shriberg, Lawrence D. 2013. Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. In Journal of neurodevelopmental disorders, 5, 29. doi:10.1186/1866-1955-5-29. https://pubmed.ncbi.nlm.nih.gov/24083349/
9. Teng, Cong, Guo, Shengyuan, Li, Ying, Ren, Guixing. 2024. Transcriptome Analysis Reveals the Mechanism of Quinoa Polysaccharides Inhibiting 3T3-L1 Preadipocyte Proliferation. In Foods (Basel, Switzerland), 13, . doi:10.3390/foods13152311. https://pubmed.ncbi.nlm.nih.gov/39123503/
10. Gao, Xibo, Chen, Lixin, Zuo, Hailiang, Li, Qinfeng. 2024. A novel hsa_circ_0006903 circular RNA promotes tumor development and dendritic cells activated expression in infantile hemangioma. In Heliyon, 10, e34186. doi:10.1016/j.heliyon.2024.e34186. https://pubmed.ncbi.nlm.nih.gov/39082028/