Osbpl2-KO Mouse
一般名
Osbpl2-KO
製品ID
S-KO-06222
背景情報
C57BL/6NCya
系統ID
KOCMP-228983-Osbpl2-B6N-VA
状況
このマウス系統を論文で使用する場合は、「Osbpl2-KO Mouse（カタログ番号S-KO-06222）はサイアジェンから購入しました。」と引用してください。
製品タイプ
年齢
遺伝子型
性別
数量
標準的な配送方法では、少なくとも3匹のヘテロ接合体キャリアを保証しています。ホモ接合体キャリアや指定された性別の個体の繁殖サービスも利用可能です。
基本情報
系統名
Osbpl2-KO
系統ID
KOCMP-228983-Osbpl2-B6N-VA
遺伝子名
製品ID
S-KO-06222
遺伝子別名
Orp2, ORP-2, C130070J12Rik
遺伝子別名
C57BL/6NCya
NCBI ID
修正
Conventional knockout
染色体
Chr 2
表現型
アプリケーション
--
さらに
系統詳細
EnsemblトランスクリプトID
ENSMUST00000040668
NCBIトランスクリプトID
NM_144500
ターゲット領域
Exon 3~4
有効領域の大きさ
~3.0 kb
遺伝子研究の概要
OSBPL2, also known as oxysterol-binding protein-related protein 2, is an important regulator in cellular lipid metabolism and transport. It is involved in pathways related to cholesterol homeostasis, lipid droplet lipolysis, and may interact with key proteins in hyperkeratosis like Phosphoinositide phospholipase C-beta-3 (PLCB3) [1,6,7]. Animal models such as gene-disrupted pigs and KO mice have been crucial in studying its functions [3,4].
Compound heterozygous variants in OSBPL2 cause Dyschromatosis, Ichthyosis, Deafness, and Atopic Disease (DIDA) syndrome. These variants lead to enhanced ubiquitination and degradation of PLCB3, resulting in epidermal hyperkeratosis [1]. Mutations in OSBPL2 also cause autosomal dominant hearing loss (DFNA67), as mutant OSBPL2 accumulates intracellularly, impairs autophagy, and disrupts endolysosomal homeostasis [2]. OSBPL2-disrupted pigs display progressive hearing loss and hypercholesterolaemia, while Osbpl2-KO mice show progressive hearing loss, abnormal cochlear development with defective cilia, and down-regulation of key molecules in the Sonic Hedgehog (Shh) signaling pathway [3,4]. In age-related hearing loss, OSBPL2 inhibition leads to apoptosis of cochlea hair cells by inhibiting the AKT/FOXG1 signaling pathway [5]. Also, OSBPL2 deficiency upregulates squalene epoxidase (SQLE) expression, increasing intracellular cholesterol and cholesteryl ester through the AMPK/SP1 and SREBF2 signalling pathway [6].
In conclusion, OSBPL2 is essential for maintaining normal cellular lipid metabolism, especially cholesterol homeostasis, and is crucial for normal auditory function and epidermal cell regulation. The use of gene-knockout mouse models and other animal models has significantly contributed to understanding its role in diseases such as DIDA syndrome, autosomal dominant hearing loss, and age-related hearing loss, providing insights into potential therapeutic strategies for these conditions.
References:
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. Koh, Young Ik, Oh, Kyung Seok, Kim, Jung Ah, Choi, Jae Young, Gee, Heon Yung. 2022. OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin. In Autophagy, 18, 2593-2614. doi:10.1080/15548627.2022.2040891. https://pubmed.ncbi.nlm.nih.gov/35253614/
3. 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/
4. Shi, Hairong, Wang, Hongshun, Zhang, Cheng, Wei, Qinjun, Cao, Xin. 2022. Mutations in OSBPL2 cause hearing loss associated with primary cilia defects via sonic hedgehog signaling. In JCI insight, 7, . doi:10.1172/jci.insight.149626. https://pubmed.ncbi.nlm.nih.gov/35041619/
5. Li-Yang, Meina, Ma, Chao, Wang, Xiaoye, You, Jianqiang. 2024. OSBPL2 inhibition leads to apoptosis of cochlea hair cells in age-related hearing loss by inhibiting the AKT/FOXG1 signaling pathway. In Aging, 16, 13132-13144. doi:10.18632/aging.206138. https://pubmed.ncbi.nlm.nih.gov/39475791/
6. Zhang, Cui, Zhang, Hongdu, Zhang, Min, Xing, Guangqian, Cao, Xin. 2019. OSBPL2 deficiency upregulate SQLE expression increasing intracellular cholesterol and cholesteryl ester by AMPK/SP1 and SREBF2 signalling pathway. In Experimental cell research, 383, 111512. doi:10.1016/j.yexcr.2019.111512. https://pubmed.ncbi.nlm.nih.gov/31356817/
7. Wang, Tianming, Wei, Qinjun, Liang, Lihong, Xing, Guangqian, Cao, Xin. 2020. OSBPL2 Is Required for the Binding of COPB1 to ATGL and the Regulation of Lipid Droplet Lipolysis. In iScience, 23, 101252. doi:10.1016/j.isci.2020.101252. https://pubmed.ncbi.nlm.nih.gov/32650117/
品質管理基準
精子検査
凍結前の精子濃度を測定し、精子の生存能力の判定します。
凍結後の精子では、各バッチから1本の凍結保存された精子を選び出し、体外受精に使用します。
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SPF対応地域:
グローバル由来:
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