Ripply2-flox 基因敲除小鼠

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产品名称

Ripply2-flox 基因敲除小鼠

产品编号

S-CKO-11025

品系全称

C57BL/6JCya-Ripply2em1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-382089-Ripply2-B6J-VA

品系状态

使用本品系发表的文献需注明: Ripply2-flox 基因敲除小鼠 mice (Strain S-CKO-11025) 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
ripply transcriptional repressor 2
基因别称
C030002E08Rik,Gm1122
染色体号
Chr 9 (Mouse)
转录本 ID
NCBI: NM_001037907.2 | Ensembl: ENSMUST00000058846
修饰方式
条件性基因敲除
靶向范围
Exon 1~3
敲除长度
~1050 bp
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:2685968Mice homozygous for null mutations display neonatal lethality, rib and vertebral abnormalities, impaired somite formation, decreased body length, and short tails.
Ripply2,也称为Ripply2,是一种重要的转录共阻遏物,含有WRPW基序。Ripply2在哺乳动物胚胎发育过程中发挥着关键作用,特别是在体节形成和体节内前后极性建立方面。Ripply2基因的表达受到Mesp2转录因子的调控,而Ripply2本身又能够抑制Mesp2的表达,形成一个负反馈回路。Ripply2的缺失会导致Mesp2的表达延长,进而影响Notch信号通路,导致体节前后极性异常。Ripply2还在体节边界形成中发挥作用,通过独立于Mesp2的方式抑制Tbx6的表达。Ripply2的表达受到Wnt3a的调控,并且与体节形成过程中的动态变化密切相关。此外,Ripply2的突变与脊椎分割缺陷有关,如脊椎分割缺陷(SDV)和脊椎肋骨发育不良(SCDO6)。Ripply2的研究有助于深入理解体节形成和脊椎发育的机制,为相关疾病的治疗和预防提供新的思路和策略[1][2][3][4][5][6][7][8][9][10]。

参考文献:
1. Morimoto, Mitsuru, Sasaki, Nobuo, Oginuma, Masayuki, Kanno, Jun, Saga, Yumiko. 2007. The negative regulation of Mesp2 by mouse Ripply2 is required to establish the rostro-caudal patterning within a somite. In Development (Cambridge, England), 134, 1561-9. doi:. https://pubmed.ncbi.nlm.nih.gov/17360776/
2. McInerney-Leo, Aideen M, Sparrow, Duncan B, Harris, Jessica E, Dunwoodie, Sally L, Duncan, Emma L. 2014. Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. In Human molecular genetics, 24, 1234-42. doi:10.1093/hmg/ddu534. https://pubmed.ncbi.nlm.nih.gov/25343988/
3. Zhao, Wei, Ajima, Rieko, Ninomiya, Youichirou, Saga, Yumiko. 2015. Segmental border is defined by Ripply2-mediated Tbx6 repression independent of Mesp2. In Developmental biology, 400, 105-17. doi:10.1016/j.ydbio.2015.01.020. https://pubmed.ncbi.nlm.nih.gov/25641698/
4. Biris, Kristin K, Dunty, William C, Yamaguchi, Terry P. . Mouse Ripply2 is downstream of Wnt3a and is dynamically expressed during somitogenesis. In Developmental dynamics : an official publication of the American Association of Anatomists, 236, 3167-72. doi:. https://pubmed.ncbi.nlm.nih.gov/17937396/
5. Wegler, Meret, Roth, Christian, Schumann, Eckehard, Abou Jamra, Rami, Hornemann, Frauke. 2021. Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6. In Clinical genetics, 99, 565-571. doi:10.1111/cge.13916. https://pubmed.ncbi.nlm.nih.gov/33410135/
6. Chan, Techuan, Kondow, Akiko, Hosoya, Akihiro, Ito, Yuzuru, Asashima, Makoto. 2007. Ripply2 is essential for precise somite formation during mouse early development. In FEBS letters, 581, 2691-6. doi:. https://pubmed.ncbi.nlm.nih.gov/17531978/
7. Yabe, Taijiro, Uriu, Koichiro, Takada, Shinji. 2023. Ripply suppresses Tbx6 to induce dynamic-to-static conversion in somite segmentation. In Nature communications, 14, 2115. doi:10.1038/s41467-023-37745-w. https://pubmed.ncbi.nlm.nih.gov/37055428/
8. Mokhateb-Rafii, Tanya, Bialer, Martin, Rodgers, Shaun, Moore, Christine, Sweberg, Todd. 2018. A Cryptic Cause of Cardiac Arrest. In The Journal of emergency medicine, 56, e1-e4. doi:10.1016/j.jemermed.2018.09.044. https://pubmed.ncbi.nlm.nih.gov/30420309/
9. Janesick, Amanda, Tang, Weiyi, Nguyen, Tuyen T L, Blumberg, Bruce. 2017. RARβ2 is required for vertebrate somitogenesis. In Development (Cambridge, England), 144, 1997-2008. doi:10.1242/dev.144345. https://pubmed.ncbi.nlm.nih.gov/28432217/
10. van der Vlis, Tim A M Bouwens, Boeykens, Annegien, Jacobs, Elke, Harhangi, Biswadjiet S, Spoor, Jochem K H. 2023. Incomplete spinal cord injury following minor trauma in two siblings with spondylocostal dysostis type 6. In Spine deformity, 12, 507-511. doi:10.1007/s43390-023-00789-5. https://pubmed.ncbi.nlm.nih.gov/38097876/