Ap3b2-flox 基因敲除小鼠

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产品名称

Ap3b2-flox 基因敲除小鼠

产品编号

S-CKO-01235

品系全称

C57BL/6JCya-Ap3b2em1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-11775-Ap3b2-B6J-VA

品系状态

使用本品系发表的文献需注明: Ap3b2-flox 基因敲除小鼠 mice (Strain S-CKO-01235) 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
adaptor-related protein complex 3, beta 2 subunit
基因别称
Naptb,[b]-NAP,beta-NAP,beta3B
染色体号
Chr 7 (Mouse)
转录本 ID
NCBI: NM_021492 | Ensembl: ENSMUST00000082090
修饰方式
条件性基因敲除
靶向范围
Exon 2~4
敲除长度
~1.9 kb
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
MGI:1100869Disruption does not alter pigmentation, but causes hyperactivity and tonic-clonic seizures and mice homozygous for a knock-out allele were found to have significantly reduced synaptic zinc levels throughout the brain, with the largest reduction observed in the CA1 stratum oriens.
AP3B2基因,全称为Adaptor-related protein complex 3 beta-2 subunit,编码的是AP-3复合体中的β2亚基。AP-3复合体是一种细胞内的蛋白质复合物,参与细胞内囊泡运输和蛋白质分选过程。该复合体在多种细胞功能中发挥作用,包括神经递质的释放、溶酶体功能和内吞作用等[1,2,3,4,5,6,7,8]。AP3B2基因的突变与多种神经发育障碍和神经退行性疾病相关。

在Lambert-Eaton肌无力综合征(LEMS)患者中,血浆长链非编码RNA(lncRNA)LOC338963和mRNA AP3B2的表达上调。LEMS是一种自身免疫性神经肌肉接头疾病,研究发现AP3B2基因的表达上调可能与该病的发病机制有关[1]。此外,AP3B2基因的突变还与发育性和癫痫性脑病(DEE)相关,DEE是一种严重的神经发育障碍,表现为反复的临床癫痫发作和认知、感觉和运动技能的退化或延迟[2]。研究发现,AP3B2基因的突变可能导致神经元特异性神经递质释放的紊乱,进而引发DEE。

AP3B2基因还与阿尔茨海默病(AD)相关。研究发现,AP3B2基因的表达在AD患者的脑组织中下调,且与β-分泌酶活性和Aβ42水平呈负相关[9]。这表明AP3B2基因可能参与了AD的发病机制,为AD的治疗和诊断提供了新的思路和策略。

此外,AP3B2基因还与慢性牙周炎(CP)相关。研究发现,AP3B2基因的变异与CP的发生和发展相关,可能参与了牙周炎的发病机制[4,8]。进一步的研究发现,AP3B2基因的变异还与近视和远视的发生相关,这可能为近视和远视的治疗和预防提供了新的思路和策略[6]。

综上所述,AP3B2基因在多种神经发育障碍和神经退行性疾病中发挥重要作用,包括LEMS、DEE和AD等。此外,AP3B2基因还与牙周炎和近视和远视的发生相关。这些发现为进一步研究AP3B2基因在疾病发生发展中的作用机制提供了重要的理论和实践基础,为相关疾病的治疗和预防提供了新的思路和策略。

参考文献:
1. Yang, Fei, Jing, Feng, Li, Yang, Huang, Xusheng, Yu, Shengyuan. 2022. Plasma lncRNA LOC338963 and mRNA AP3B2 are upregulated in paraneoplastic Lambert-Eaton myasthenic syndrome. In Muscle & nerve, 66, 216-222. doi:10.1002/mus.27571. https://pubmed.ncbi.nlm.nih.gov/35508598/
2. Dilber, Cengiz, Yücel, Gül, Şahin, Yavuz. 2022. Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity. In Clinical neurology and neurosurgery, 223, 107509. doi:10.1016/j.clineuro.2022.107509. https://pubmed.ncbi.nlm.nih.gov/36356440/
3. Chen, Chunjing, Zou, Xianqiong, Ji, Chaoneng, Xie, Yi, Mao, Yumin. . Characterization of AP3B2_v2, a novel splice variant of human AP3B2. In DNA sequence : the journal of DNA sequencing and mapping, 18, 165-8. doi:. https://pubmed.ncbi.nlm.nih.gov/17453999/
4. Rhodin, K, Divaris, K, North, K E, Beck, J D, Offenbacher, S. 2014. Chronic periodontitis genome-wide association studies: gene-centric and gene set enrichment analyses. In Journal of dental research, 93, 882-90. doi:10.1177/0022034514544506. https://pubmed.ncbi.nlm.nih.gov/25056994/
5. Assoum, Mirna, Philippe, Christophe, Isidor, Bertrand, Faivre, Laurence, Thevenon, Julien. 2016. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. In American journal of human genetics, 99, 1368-1376. doi:10.1016/j.ajhg.2016.10.009. https://pubmed.ncbi.nlm.nih.gov/27889060/
6. Chen, Fei, Duggal, Priya, Klein, Barbara E K, Iyengar, Sudha K, Klein, Alison P. 2016. Variation in PTCHD2, CRISP3, NAP1L4, FSCB, and AP3B2 associated with spherical equivalent. In Molecular vision, 22, 783-96. doi:. https://pubmed.ncbi.nlm.nih.gov/27440996/
7. Ueda, Kimiko, Ogawa, Satoru, Matsuda, Keiko, Yamamoto, Toshiyuki, Okamoto, Nobuhiko. 2021. Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15. In American journal of medical genetics. Part A, 185, 3092-3098. doi:10.1002/ajmg.a.62371. https://pubmed.ncbi.nlm.nih.gov/34042275/
8. Khandia, Rekha, Pandey, Megha, Rzhepakovsky, Igor Vladimirovich, Khan, Azmat Ali, Legaz, Isabel. 2022. Codon Pattern and Compositional Constraints Determination of Genes Associated with Chronic Periodontitis. In Genes, 13, . doi:10.3390/genes13111934. https://pubmed.ncbi.nlm.nih.gov/36360171/
9. Zhu, Min, Jia, Longfei, Li, Fangyu, Jia, Jianping. 2020. Identification of KIAA0513 and Other Hub Genes Associated With Alzheimer Disease Using Weighted Gene Coexpression Network Analysis. In Frontiers in genetics, 11, 981. doi:10.3389/fgene.2020.00981. https://pubmed.ncbi.nlm.nih.gov/33005179/