C57BL/6JCya-Osbpl2em1/Cya
Common Name:
Osbpl2-KO
Product ID:
S-KO-17299
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Osbpl2-KO
Strain ID
KOCMP-228983-Osbpl2-B6J-VA
Gene Name
Product ID
S-KO-17299
Gene Alias
C130070J12Rik; ORP-2; Orp2
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
2
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Osbpl2em1/Cya mice (Catalog S-KO-17299) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000040668
NCBI RefSeq
NM_144500
Target Region
Exon 4
Size of Effective Region
~0.9 kb
Detailed Document
Overview of Gene Research
Osbpl2, also known as oxysterol-binding protein-related protein 2, is an important regulator in cellular lipid metabolism and transport. It is involved in maintaining lipid homeostasis, and has been implicated in pathways related to cholesterol biosynthesis, such as the AMPK signaling pathway. Additionally, it may play a role in autophagy, ciliogenesis, and the Sonic Hedgehog (Shh) signaling pathway, which are crucial for normal physiological functions [1,2,3,5,6]. Animal models, especially gene-knockout (KO) models, have been valuable in understanding its functions.
Osbpl2-KO mice exhibited progressive hearing loss, abnormal cochlear development with defective cilia, and disrupted endolysosomal homeostasis and autophagy [1,3]. In Osbpl2-disrupted pigs, there was progressive hearing loss along with hypercholesterolaemia, indicating a potential link between auditory dysfunction and dyslipidaemia [2]. In cell-based studies, knockdown of Osbpl2 led to increased cholesterol and cholesteryl ester accumulation by upregulating SQLE expression via the AMPK/SP1 and SREBF2 signalling pathways [5]. In the context of age-related hearing loss, inhibition of Osbpl2 in hair cell-like inner ear cells led to apoptosis through inactivation of the AKT/FOXG1 signaling pathway [4].
In conclusion, Osbpl2 is essential for normal auditory function, lipid metabolism, and cellular homeostasis. The use of KO mouse and other animal models has significantly contributed to understanding its role in non-syndromic hearing loss, hypercholesterolaemia, and other related disease conditions, providing insights into potential therapeutic strategies for these disorders.
References:
1. 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/
2. 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/
3. 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/
4. 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/
5. 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/
6. 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/
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