Osbpl2-KO 基因敲除小鼠

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产品名称

Osbpl2-KO 基因敲除小鼠

产品编号

S-KO-06222

品系全称

C57BL/6NCya-Osbpl2em1/Cya

品系背景

C57BL/6NCya

品系编号

KOCMP-228983-Osbpl2-B6N-VA

品系状态

使用本品系发表的文献需注明: Osbpl2-KO 基因敲除小鼠 mice (Strain S-KO-06222) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量

基本信息

基因研究概述

质控标准

基因
基因全称
oxysterol binding protein-like 2
基因别称
C130070J12Rik,ORP-2,Orp2
染色体号
Chr 2 (Mouse)
转录本 ID
NCBI: NM_144500 | Ensembl: ENSMUST00000040668
修饰方式
全身性基因敲除
靶向范围
Exon 3~4
敲除长度
~3.0 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:2442832Mice homozygous for a null allele show progressive hearing loss, abnormal cochlear development with defective cilia.
Osbpl2,也称为oxysterol-binding protein-related protein 2,是oxysterol-binding protein (OSBP)家族成员之一。OSBP家族成员是一类脂质结合蛋白,主要参与细胞内胆固醇和氧化甾醇的转运和代谢。Osbpl2在多种生物学过程中发挥重要作用,包括胆固醇稳态、脂质代谢、细胞信号传导和细胞分化等。

Osbpl2在胆固醇代谢中发挥着重要作用。胆固醇是细胞膜的重要组成成分,参与细胞信号传导和细胞功能的维持。Osbpl2能够结合胆固醇,并将其转运到细胞内特定的位置,如内质网和高尔基体,参与胆固醇的代谢和利用。Osbpl2的突变或表达异常可能导致胆固醇代谢紊乱,从而引发多种疾病,如高胆固醇血症和动脉粥样硬化等[1,4,7]。

Osbpl2还与细胞信号传导相关。Osbpl2能够与多种蛋白质相互作用,如磷脂酰肌醇磷酸酶C-beta-3(PLCB3)和AMP激活的蛋白激酶(AMPK)等,参与细胞信号传导通路的调控。Osbpl2的突变或表达异常可能导致细胞信号传导紊乱,从而引发多种疾病,如皮肤病和听力丧失等[1,2,3,6]。

Osbpl2在细胞分化中也发挥着重要作用。Osbpl2能够与β-catenin相互作用,调控Wnt信号通路,进而影响细胞分化和肥胖的发生。Osbpl2的突变或表达异常可能导致细胞分化紊乱,从而引发多种疾病,如肥胖和糖尿病等[5]。

总之,Osbpl2在多种生物学过程中发挥着重要作用,包括胆固醇代谢、细胞信号传导和细胞分化等。Osbpl2的突变或表达异常可能导致多种疾病的发生,如高胆固醇血症、皮肤病、听力丧失、肥胖和糖尿病等。Osbpl2的研究有助于深入理解这些疾病的发病机制,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Wang, Yumeng, Zhao, Anqi, Zhou, Naihui, Li, Ming, Li, Min. 2024. OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome. In Biochimica et biophysica acta. Molecular basis of disease, 1870, 167207. doi:10.1016/j.bbadis.2024.167207. https://pubmed.ncbi.nlm.nih.gov/38701954/
2. Xing, Guangqian, Yao, Jun, Wu, Bin, Yang, Xiaonan, Cao, Xin. 2014. Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing. In Genetics in medicine : official journal of the American College of Medical Genetics, 17, 210-8. doi:10.1038/gim.2014.90. https://pubmed.ncbi.nlm.nih.gov/25077649/
3. Wang, Hongshun, Lin, Changsong, Yao, Jun, Xing, Guangqian, Cao, Xin. 2019. Deletion of OSBPL2 in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity. In Cell death & disease, 10, 627. doi:10.1038/s41419-019-1858-9. https://pubmed.ncbi.nlm.nih.gov/31427568/
4. Yao, Jun, Zeng, Huasha, Zhang, Min, Cao, Xin, Dai, Yifan. 2019. OSBPL2-disrupted pigs recapitulate dual features of human hearing loss and hypercholesterolaemia. In Journal of genetics and genomics = Yi chuan xue bao, 46, 379-387. doi:10.1016/j.jgg.2019.06.006. https://pubmed.ncbi.nlm.nih.gov/31451425/
5. Wang, Tianming, Zhang, Tianyu, Tang, Youzhi, Qu, Yuan, Cao, Xin. 2021. Oxysterol-binding protein-like 2 contributes to the developmental progression of preadipocytes by binding to β-catenin. In Cell death discovery, 7, 109. doi:10.1038/s41420-021-00503-2. https://pubmed.ncbi.nlm.nih.gov/34001864/
6. Kiss, Robert S, Chicoine, Jarred, Khalil, Youssef, Sheridan, Eamonn, Handley, Mark T. 2023. Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis. In The Journal of biological chemistry, 299, 105295. doi:10.1016/j.jbc.2023.105295. https://pubmed.ncbi.nlm.nih.gov/37774976/
7. Wu, Ningjin, Husile, Husile, Yang, Liqing, Liu, Yangjian, Wu, Qizhu. 2019. A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family. In BMC medical genetics, 20, 43. doi:10.1186/s12881-019-0781-3. https://pubmed.ncbi.nlm.nih.gov/30894143/