Mks1-flox 基因敲除小鼠

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产品名称

Mks1-flox 基因敲除小鼠

产品编号

S-CKO-10860

品系全称

C57BL/6JCya-Mks1em1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-380718-Mks1-B6J-VA

品系状态

使用本品系发表的文献需注明: Mks1-flox 基因敲除小鼠 mice (Strain S-CKO-10860) 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
MKS transition zone complex subunit 1
基因别称
B8d3,avc6
染色体号
Chr 11 (Mouse)
转录本 ID
NCBI: NM_001039684.3 | Ensembl: ENSMUST00000038196
修饰方式
条件性基因敲除
靶向范围
Exon 10~14
敲除长度
~2262 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:3584243Mice homozygous for an ENU-induced or targeted allele exhibit polydactyly, heterotaxia, skeletal defects, and kidney cysts along with abnormal lung, kidney, liver, and heart morphology.
Mks1,也称为MAP kinase 4 nuclear substrate 1,是一种在真核生物中广泛表达的蛋白质。Mks1在多种生物学过程中发挥重要作用,包括细胞分化、发育、代谢和疾病发生。Mks1是一种负性调节因子,可以抑制Ras-cAMP信号通路,调节基因表达和细胞功能。

Mks1在多种疾病中发挥重要作用,包括ciliopathies、Meckel-Gruber综合征(MKS)和Joubert综合征(JS)。ciliopathies是一组由细胞纤毛功能障碍引起的疾病,Mks1突变可以导致ciliopathies的发生。MKS是一种严重的胎儿发育障碍,Mks1突变可以导致MKS的发生。JS是一种由脑发育异常引起的疾病,Mks1突变可以导致JS的发生。此外,Mks1还在植物中发挥作用,可以影响植物的生长发育和抗病性。

Mks1的研究有助于深入理解细胞信号通路、基因表达和疾病发生机制,为疾病的治疗和预防提供新的思路和策略。

Mks1是一种重要的负性调节因子,可以抑制Ras-cAMP信号通路,调节基因表达和细胞功能。Mks1在多种疾病中发挥重要作用,包括ciliopathies、MKS和JS。Mks1的研究有助于深入理解细胞信号通路、基因表达和疾病发生机制,为疾病的治疗和预防提供新的思路和策略[1,2,3,4,5,6,7,8,9,10]。

参考文献:
1. McConnachie, Dominique J, Stow, Jennifer L, Mallett, Andrew J. 2020. Ciliopathies and the Kidney: A Review. In American journal of kidney diseases : the official journal of the National Kidney Foundation, 77, 410-419. doi:10.1053/j.ajkd.2020.08.012. https://pubmed.ncbi.nlm.nih.gov/33039432/
2. Gargul, Joanna Maria, Mibus, Heiko, Serek, Margrethe. 2014. Manipulation of MKS1 gene expression affects Kalanchoë blossfeldiana and Petunia hybrida phenotypes. In Plant biotechnology journal, 13, 51-61. doi:10.1111/pbi.12234. https://pubmed.ncbi.nlm.nih.gov/25082411/
3. Bader, Ingrid, Decker, E, Mayr, J A, Bergmann, C, Rittinger, O. 2016. MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. In European journal of medical genetics, 59, 386-91. doi:10.1016/j.ejmg.2016.06.007. https://pubmed.ncbi.nlm.nih.gov/27377014/
4. Slaats, Gisela G, Isabella, Christine R, Kroes, Hester Y, Giles, Rachel H, Doherty, Dan. 2015. MKS1 regulates ciliary INPP5E levels in Joubert syndrome. In Journal of medical genetics, 53, 62-72. doi:10.1136/jmedgenet-2015-103250. https://pubmed.ncbi.nlm.nih.gov/26490104/
5. Matsuura, A, Anraku, Y. . Characterization of the MKS1 gene, a new negative regulator of the Ras-cyclic AMP pathway in Saccharomyces cerevisiae. In Molecular & general genetics : MGG, 238, 6-16. doi:. https://pubmed.ncbi.nlm.nih.gov/8386801/
6. Qin, Yayun, Yao, Yanyi, Liu, Nian, Zhang, Fanglian, Song, Jieping. 2023. Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases. In BMC medical genomics, 16, 262. doi:10.1186/s12920-023-01697-3. https://pubmed.ncbi.nlm.nih.gov/37880672/
7. Auber, B, Burfeind, P, Herold, S, Rauskolb, R, Rehder, H. . A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. In Clinical genetics, 72, 454-9. doi:. https://pubmed.ncbi.nlm.nih.gov/17935508/
8. Andreasson, Erik, Jenkins, Thomas, Brodersen, Peter, Mattsson, Ole, Mundy, John. 2005. The MAP kinase substrate MKS1 is a regulator of plant defense responses. In The EMBO journal, 24, 2579-89. doi:. https://pubmed.ncbi.nlm.nih.gov/15990873/
9. Dilova, Ivanka, Chen, Ching-Yi, Powers, Ted. . Mks1 in concert with TOR signaling negatively regulates RTG target gene expression in S. cerevisiae. In Current biology : CB, 12, 389-95. doi:. https://pubmed.ncbi.nlm.nih.gov/11882290/
10. Kyttälä, Mira, Tallila, Jonna, Salonen, Riitta, Peltonen, Leena, Kestilä, Marjo. 2006. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. In Nature genetics, 38, 155-7. doi:. https://pubmed.ncbi.nlm.nih.gov/16415886/