Acvr2a-KO 基因敲除小鼠

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产品名称

Acvr2a-KO 基因敲除小鼠

产品编号

S-KO-19930

品系全称

C57BL/6NCya-Acvr2aem1/Cya

品系背景

C57BL/6NCya

品系编号

KOCMP-11480-Acvr2a-B6N-VA

品系状态

使用本品系发表的文献需注明: Acvr2a-KO 基因敲除小鼠 mice (Strain S-KO-19930) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量
KO小鼠库模型
TGF-β信号通路

基本信息

基因研究概述

质控标准

基因
基因全称
activin receptor IIA
基因别称
ActrIIa,Acvr2,TactrII
染色体号
Chr 2 (Mouse)
转录本 ID
NCBI: NM_007396 | Ensembl: ENSMUST00000063886
修饰方式
全身性基因敲除
靶向范围
Exon 2~4
敲除长度
~4.3 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:102806While most mice homozygous for targeted mutations that inactivate this gene appear normal, a few display skeletal and facial abnormalities. As adults, follicle-stimulating hormone is suppressed, affecting reproduction.
ACVR2A,也称为Activin A受体2A,是一种重要的细胞表面受体,属于TGF-β超家族。ACVR2A主要与Activin A结合,并参与多种生物学过程,包括细胞增殖、分化和凋亡。ACVR2A与另一个受体ACVR2B形成异源四聚体,共同激活下游的Smad信号通路,进而调控基因表达和细胞功能。ACVR2A在多种组织中表达,包括肝脏、肌肉、乳腺和胎盘等。

ACVR2A在多种疾病中发挥重要作用。在非酒精性脂肪性肝炎(NASH)相关肝细胞癌(HCC)中,ACVR2A突变率较高,且存在一种新的突变特征,与NASH-HCC的发生发展密切相关[1]。此外,ACVR2A基因多态性与妊娠期高血压疾病(HDP)的风险相关,尤其是在子痫前期患者中,ACVR2A基因的多态性更为显著[2,3,6,9]。在结直肠癌中,ACVR2A基因的表达与肿瘤大小相关,较大肿瘤的ACVR2A表达水平较高,这可能与肿瘤生长过程中的病理变化有关[4]。ACVR2A基因在鸡成肌细胞中的表达模式在胚胎期与肉鸡和蛋鸡相似,但在孵化后期的表达存在显著差异。通过设计shRNA分子,可以在细胞培养系统中沉默ACVR2A基因的表达[5]。ACVR2A基因在Th17细胞分化过程中被诱导表达,使其与Th1、Th2和Treg细胞区分开来[7]。此外,ACVR2A基因的环状RNA(circRNA)通过miR-511-5p靶向PI3K-Akt信号通路,促进肝细胞癌的进展[8]。

综上所述,ACVR2A是一种重要的细胞表面受体,参与多种生物学过程,包括细胞增殖、分化和凋亡。ACVR2A在多种疾病中发挥重要作用,包括NASH-HCC、HDP、结直肠癌和Th17细胞分化等。此外,ACVR2A基因的环状RNA在肝细胞癌的发生发展中起到重要作用。ACVR2A的研究有助于深入理解其生物学功能和疾病发生机制,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Pinyol, Roser, Torrecilla, Sara, Wang, Huan, Sia, Daniela, Llovet, Josep M. 2021. Molecular characterisation of hepatocellular carcinoma in patients with non-alcoholic steatohepatitis. In Journal of hepatology, 75, 865-878. doi:10.1016/j.jhep.2021.04.049. https://pubmed.ncbi.nlm.nih.gov/33992698/
2. Wodziński, Damian, Wosiak, Agnieszka, Pietrzak, Jacek, Jeleń, Agnieszka, Balcerczak, Ewa. 2019. Does the expression of the ACVR2A gene affect the development of colorectal cancer? In Genetics and molecular biology, 42, 32-39. doi:10.1590/1678-4685-GMB-2017-0332. https://pubmed.ncbi.nlm.nih.gov/30856244/
3. Yanan, Feng, Rui, Lu, Xiaoying, Li, Xiaolei, Yuan, Litao, Sun. 2019. Association between ACVR2A gene polymorphisms and risk of hypertensive disorders of pregnancy in the northern Chinese population. In Placenta, 90, 1-8. doi:10.1016/j.placenta.2019.11.004. https://pubmed.ncbi.nlm.nih.gov/31790936/
4. Satheesh, P, Bhattacharya, T K, Kumar, P, Shukla, R, Dushyanth, K. 2016. Gene expression and silencing of activin receptor type 2A (ACVR2A) in myoblast cells of chicken. In British poultry science, 57, 763-770. doi:. https://pubmed.ncbi.nlm.nih.gov/27635666/
5. Ihn, Hyun-Ju, Kim, Dong Hyeok, Oh, Sang-Seok, Song, Hyunkeun, Kim, Kwang Dong. 2011. Identification of Acvr2a as a Th17 cell-specific gene induced during Th17 differentiation. In Bioscience, biotechnology, and biochemistry, 75, 2138-41. doi:. https://pubmed.ncbi.nlm.nih.gov/22056434/
6. Glotov, Andrey S, Kazakov, Sergey V, Vashukova, Elena S, Zainullina, Marina S, Baranov, Vladislav S. 2018. Targeted sequencing analysis of ACVR2A gene identifies novel risk variants associated with preeclampsia. In The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 32, 2790-2796. doi:10.1080/14767058.2018.1449204. https://pubmed.ncbi.nlm.nih.gov/29506428/
7. Jo, Chan-Woo, Lee, Ji Hyun, Song, Je Seon, Lee, Jae-Hoon, Lee, Hyo-Seol. . Isolated and Sporadic Human Mesiodens Is Associated with a Synonymous Variant in the ACVR2A Gene. In Pediatric dentistry, 43, 39-43. doi:. https://pubmed.ncbi.nlm.nih.gov/33662249/
8. Fei, Du, Wang, Fang, Wang, Yaohui, Zhang, Zhuo, Jiang, Xian. 2024. Circular RNA ACVR2A promotes the progression of hepatocellular carcinoma through mir-511-5p targeting PI3K-Akt signaling pathway. In Molecular cancer, 23, 159. doi:10.1186/s12943-024-02074-z. https://pubmed.ncbi.nlm.nih.gov/39107843/
9. Lokki, A Inkeri, Klemetti, Miira M, Heino, Sanna, Heinonen, Seppo, Laivuori, Hannele. 2011. Association of the rs1424954 polymorphism of the ACVR2A gene with the risk of pre-eclampsia is not replicated in a Finnish study population. In BMC research notes, 4, 545. doi:10.1186/1756-0500-4-545. https://pubmed.ncbi.nlm.nih.gov/22177086/