Msh4-flox 基因敲除小鼠

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产品名称

Msh4-flox 基因敲除小鼠

产品编号

S-CKO-11913

品系全称

C57BL/6JCya-Msh4em1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-55993-Msh4-B6J-VA

品系状态

使用本品系发表的文献需注明: Msh4-flox 基因敲除小鼠 mice (Strain S-CKO-11913) 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
mutS homolog 4
基因别称
4930485C04Rik,mMsh4
染色体号
Chr 3 (Mouse)
转录本 ID
NCBI: NM_031870 | Ensembl: ENSMUST00000005630
修饰方式
条件性基因敲除
靶向范围
Exon 5
敲除长度
~1.4 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:1860077Homozygotes for a targeted null mutation exhibit male and female sterility associated with failure to undergo pairing during meiosis.
Msh4,也称为MutS Homolog 4,是一种在减数分裂细胞中表达的MutS同源蛋白。Msh4在减数分裂中起着关键作用,参与染色体的联会和交叉互换的调控。Msh4与另一个蛋白质Msh5形成复合物,共同参与减数分裂过程中的同源染色体联会和交叉互换的形成。Msh4和Msh5复合物与同源染色体的联会和交叉互换的形成密切相关,Msh4缺失会导致染色体联会和交叉互换的缺陷,进而导致减数分裂的阻滞和生殖细胞的异常[7]。

Msh4在多种生物学过程中发挥着重要作用,包括生殖细胞的形成、染色体稳定性和遗传多样性。Msh4在生殖细胞形成过程中发挥着重要作用,其缺失会导致生殖细胞的发育异常和生殖功能障碍。Msh4的缺失会导致减数分裂的阻滞和生殖细胞的异常,进而导致生殖功能障碍,如女性卵巢功能不全和男性不育[1,4,9]。Msh4在染色体稳定性中也发挥着重要作用,其缺失会导致染色体不稳定性增加和遗传多样性减少。Msh4的缺失会导致染色体联会和交叉互换的缺陷,进而导致染色体不稳定性增加和遗传多样性减少[3,7]。

Msh4的研究不仅有助于深入理解减数分裂的生物学功能和疾病发生机制,还为生殖功能障碍和相关疾病的治疗和预防提供新的思路和策略。例如,通过基因编辑技术修复Msh4的突变,可以恢复其功能,从而治疗生殖功能障碍和相关疾病。此外,Msh4的表达水平和突变状态可以作为生殖功能障碍和相关疾病的诊断和预测指标,为临床诊断和治疗提供重要的参考依据[1,2,3,4,5,6,7,8,9,10]。

参考文献:
1. França, Monica Malheiros, Mendonca, Berenice Bilharinho. 2021. Genetics of ovarian insufficiency and defects of folliculogenesis. In Best practice & research. Clinical endocrinology & metabolism, 36, 101594. doi:10.1016/j.beem.2021.101594. https://pubmed.ncbi.nlm.nih.gov/34794894/
2. Tang, Dongdong, Xu, Chuan, Geng, Hao, He, Xiaojin, Cao, Yunxia. 2020. A novel homozygous mutation in the meiotic gene MSH4 leading to male infertility due to non-obstructive azoospermia. In American journal of translational research, 12, 8185-8191. doi:. https://pubmed.ncbi.nlm.nih.gov/33437391/
3. Gonzalo, Adrián, Lucas, Marie-Odile, Charpentier, Catherine, Lloyd, Andrew, Jenczewski, Eric. 2019. Reducing MSH4 copy number prevents meiotic crossovers between non-homologous chromosomes in Brassica napus. In Nature communications, 10, 2354. doi:10.1038/s41467-019-10010-9. https://pubmed.ncbi.nlm.nih.gov/31142748/
4. Luo, Wei, Ke, Hanni, Tang, Shuyan, Guo, Ting, Qin, Yingying. 2023. Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants. In Journal of ovarian research, 16, 39. doi:10.1186/s13048-023-01104-6. https://pubmed.ncbi.nlm.nih.gov/36793102/
5. Luo, Chunhai, Xu, Haoran, Yu, Ziqi, Zhan, Junfeng, Sun, Fei. . Meiotic chromatin-associated HSF5 is indispensable for pachynema progression and male fertility. In Nucleic acids research, 52, 10255-10275. doi:10.1093/nar/gkae701. https://pubmed.ncbi.nlm.nih.gov/39162221/
6. Yamasaki, Fuga, Nakazawa, Takehito, Oh, Minji, Sakamoto, Masahiro, Honda, Yoichi. . Gene targeting of dikaryotic Pleurotus ostreatus nuclei using the CRISPR/Cas9 system. In FEMS microbiology letters, 369, . doi:10.1093/femsle/fnac083. https://pubmed.ncbi.nlm.nih.gov/36001999/
7. Novak, J E, Ross-Macdonald, P B, Roeder, G S. . The budding yeast Msh4 protein functions in chromosome synapsis and the regulation of crossover distribution. In Genetics, 158, 1013-25. doi:. https://pubmed.ncbi.nlm.nih.gov/11454751/
8. Devall, Matthew, Ali, Mourad W, Eaton, Stephen, Li, Li, Casey, Graham. 2023. Multi-omic analysis in normal colon organoids highlights MSH4 as a novel marker of defective mismatch repair in Lynch syndrome and microsatellite instability. In Cancer medicine, 12, 13551-13572. doi:10.1002/cam4.6048. https://pubmed.ncbi.nlm.nih.gov/37162286/
9. Carlosama, Carolina, Elzaiat, Maëva, Patiño, Liliana C, Veitia, Reiner A, Laissue, Paul. . A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency. In Human molecular genetics, 26, 3161-3166. doi:10.1093/hmg/ddx199. https://pubmed.ncbi.nlm.nih.gov/28541421/
10. Heddar, Abdelkader, Ogur, Cagri, Da Costa, Sabrina, Catteau-Jonard, Sophie, Misrahi, Micheline. 2022. Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine. In EBioMedicine, 84, 104246. doi:10.1016/j.ebiom.2022.104246. https://pubmed.ncbi.nlm.nih.gov/36099812/