Ccno-KO 基因敲除小鼠

下单100%中奖,最高可得千元京东卡
复苏/繁育服务
产品名称

Ccno-KO 基因敲除小鼠

产品编号

S-KO-05446

品系全称

C57BL/6JCya-Ccnoem1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-218630-Ccno-B6J-VA

品系状态

使用本品系发表的文献需注明: Ccno-KO 基因敲除小鼠 mice (Strain S-KO-05446) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量

基本信息

基因研究概述

质控标准

基因
基因全称
cyclin O
基因别称
Ccnu,E130318K11,UDG2,Ung2
染色体号
Chr 13 (Mouse)
转录本 ID
NCBI: NM_001081062.1 | Ensembl: ENSMUST00000038404
修饰方式
全身性基因敲除
靶向范围
Exon 2~3
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:2145534Mice homozygous for a knock-out allele exhibit pre-weaning lethality after E17, hydrocephaly, growth retardation, enlarged brain ventricles, thin cerebral cortex, nasal cavity congestion and impaired formation of deuterosomes and centrioles.
基因Ccno,也称为Cyclin O,是细胞周期调控中的一个重要基因。Ccno编码的蛋白Cyclin O属于细胞周期蛋白家族,具有调控细胞周期、细胞凋亡和细胞器发生等功能。Ccno的突变与多种疾病相关,包括原发性纤毛运动不良(PCD)和脑积水等。

原发性纤毛运动不良(PCD)是一种罕见的遗传性疾病,其特征是纤毛功能异常,导致呼吸系统、生殖系统和内耳功能障碍。Ccno突变已被证实与PCD有关,其突变导致纤毛数量减少和纤毛发生障碍,进而影响肺部的粘液清除和生殖系统的功能。例如,有研究表明,Ccno突变的患者中,纤毛数量明显减少,并且纤毛的形态和运动功能异常,导致粘液清除障碍和反复感染[9]。

Ccno突变也与脑积水相关。脑积水是一种由于脑脊液循环受阻导致的脑室扩大和脑组织受损的疾病。Ccno突变导致脑室系统发育异常,进而影响脑脊液的循环和吸收。有研究表明,Ccno突变的小鼠模型表现出脑积水症状,包括脑室扩大和脑组织受损[4]。

除了PCD和脑积水,Ccno突变还与生长发育障碍和生殖系统功能障碍相关。Ccno突变导致细胞周期调控异常,进而影响细胞的生长和分裂。有研究表明,Ccno突变的小鼠模型表现出生长发育迟缓和生殖系统功能障碍,包括不孕不育[4]。

综上所述,基因Ccno在细胞周期调控、细胞凋亡和细胞器发生中发挥重要作用。Ccno的突变与多种疾病相关,包括原发性纤毛运动不良(PCD)、脑积水、生长发育障碍和生殖系统功能障碍。对Ccno的研究有助于深入理解细胞周期调控的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[1,2,3,4,5,6,7,8,9]。

参考文献:
1. Guan, Yuhong, Yang, Haiming, Yao, Xingfeng, Ge, Wentong, Ni, Xin. 2021. Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China. In Chest, 159, 1768-1781. doi:10.1016/j.chest.2021.02.006. https://pubmed.ncbi.nlm.nih.gov/33577779/
2. Dahlmann, Julia, Sahabian, Anais, Drick, Nora, Martin, Ulrich, Olmer, Ruth. 2020. Generation of two hiPSC lines (MHHi016-A, MHHi016-B) from a primary ciliary dyskinesia patient carrying a homozygous 5 bp duplication (c.248_252dup (p.Gly85Cysfs*11)) in exon 1 of the CCNO gene. In Stem cell research, 46, 101850. doi:10.1016/j.scr.2020.101850. https://pubmed.ncbi.nlm.nih.gov/32464346/
3. Zhang, Yun-Yan, Lou, Yan, Yan, Han, Tang, Hao. . CCNO mutation as a cause of primary ciliary dyskinesia: A case report. In World journal of clinical cases, 10, 9148-9155. doi:10.12998/wjcc.v10.i25.9148. https://pubmed.ncbi.nlm.nih.gov/36157652/
4. Núnez-Ollé, Marc, Jung, Carole, Terré, Berta, Muñoz, Francisco J, Gil-Gómez, Gabriel. 2017. Constitutive Cyclin O deficiency results in penetrant hydrocephalus, impaired growth and infertility. In Oncotarget, 8, 99261-99273. doi:10.18632/oncotarget.21818. https://pubmed.ncbi.nlm.nih.gov/29245899/
5. Wang, Lina, Gao, Liwei, Chen, Yinghong, Xu, BaoPing. 2024. Transcriptional regulation of CCNO during the formation of multiple motile cilia. In Biochemical and biophysical research communications, 735, 150428. doi:10.1016/j.bbrc.2024.150428. https://pubmed.ncbi.nlm.nih.gov/39094231/
6. Funk, Maja C, Bera, Agata N, Menchen, Tabea, Frank, Marcus, Arnold, Sebastian J. 2015. Cyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells. In The EMBO journal, 34, 1078-89. doi:10.15252/embj.201490805. https://pubmed.ncbi.nlm.nih.gov/25712475/
7. Pifferi, Massimo, Boner, Attilio, Maj, Debora, Peroni, Diego, Bush, Andrew. . Is Lung Function Decline Always Severe in Primary Ciliary Dyskinesia Due to Mutations in CCNO Gene? In Pediatric pulmonology, 60, e71015. doi:10.1002/ppul.71015. https://pubmed.ncbi.nlm.nih.gov/39998908/
8. Celiksoy, Mehmet Halil, Turan, Işılay, Gezdirici, Alper, Aydoğmuş, Çiğdem, Naiboglu, Sezin. 2023. A novel homozygous frameshift CCNO variant presenting with primary ciliary dyskinesia and selective IgM deficiency. In Pediatric pulmonology, 58, 3333-3336. doi:10.1002/ppul.26607. https://pubmed.ncbi.nlm.nih.gov/37503872/
9. Wallmeier, Julia, Al-Mutairi, Dalal A, Chen, Chun-Ting, Alkuraya, Fowzan S, Omran, Heymut. 2014. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. In Nature genetics, 46, 646-51. doi:10.1038/ng.2961. https://pubmed.ncbi.nlm.nih.gov/24747639/