Dnah17-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

Dnah17-KO 基因敲除小鼠

产品编号

S-KO-13218

品系全称

C57BL/6NCya-Dnah17em1/Cya

品系背景

C57BL/6NCya

品系编号

KOCMP-69926-Dnah17-B6N-VA

品系状态

使用本品系发表的文献需注明: Dnah17-KO 基因敲除小鼠 mice (Strain S-KO-13218) 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
dynein, axonemal, heavy chain 17
基因别称
2810003K23Rik,Dnahc17,Dnahcl1,Gm1178,mKIAA3028
染色体号
Chr 11 (Mouse)
转录本 ID
NCBI: NM_001167746 | Ensembl: ENSMUST00000084803
修饰方式
全身性基因敲除
靶向范围
Exon 2~11
敲除长度
~7.8 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:1917176Mice homozygous for a null allele exhibit oligozoospermia, globozoospermia, and asthenozoospermia associated with abnormal sperm axoneme morphology. Mice homozygolus for a point mutation allele exhibit reduced fertility and abnormal sperm axoneme morphology.
DNAH17(dynein axonemal heavy chain 17)基因编码的是一种外臂动力蛋白重链,主要表达于睾丸中,并定位于精子的鞭毛上。动力蛋白是一种驱动细胞内运输和细胞器运动的重要分子马达,其功能异常与多种疾病相关,包括男性不育、器官左右不对称等。

DNAH17基因的突变与多种疾病相关。例如,DNAH17基因的突变可能导致精子鞭毛结构异常,进而导致男性不育[1,2,6,7]。研究表明,DNAH17基因的突变可能导致精子鞭毛微管双体4-7的缺失,进而导致精子运动能力下降,引起男性不育[2,7]。此外,DNAH17基因的突变还可能导致器官左右不对称,如内脏异位症[3]。内脏异位症是一种先天性疾病,表现为心脏、肝脏等内脏器官的左右位置颠倒或错位,严重者可危及生命。研究发现,DNAH17基因的突变可能导致纤毛结构或功能异常,进而导致内脏异位症的发生[3]。

DNAH17基因的突变还与胰腺癌的发生和发展相关[9]。研究发现,DNAH17-AS1(DNAH17的反义长非编码RNA)在胰腺癌组织中高表达,并且与肿瘤的侵袭性和患者的预后不良相关。DNAH17-AS1通过竞争性结合miR-432-5p,上调PPME1的表达,进而促进胰腺癌细胞的增殖和侵袭[9]。

DNAH17基因的甲基化状态与肝癌的发生和发展相关[10]。研究发现,DNAH17基因在肝癌组织中甲基化水平显著降低,而DNAH17的表达水平升高。DNAH17基因的甲基化状态与肝癌的多个临床病理因素相关,如肿瘤大小、AFP水平、患者年龄、肿瘤包膜、肿瘤坏死等[10]。

综上所述,DNAH17基因在多种生物学过程中发挥重要作用,其突变和表观遗传修饰与多种疾病相关。深入研究DNAH17基因的功能和调控机制,有助于揭示相关疾病的发病机制,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Xue, Yamei, Cheng, Xiaohong, Xiong, Yuping, Li, Kun. 2022. Gene mutations associated with fertilization failure after in vitro fertilization/intracytoplasmic sperm injection. In Frontiers in endocrinology, 13, 1086883. doi:10.3389/fendo.2022.1086883. https://pubmed.ncbi.nlm.nih.gov/36589837/
2. Zhang, Beibei, Ma, Hui, Khan, Teka, Zhang, Yuanwei, Shi, Qinghua. . A DNAH17 missense variant causes flagella destabilization and asthenozoospermia. In The Journal of experimental medicine, 217, . doi:10.1084/jem.20182365. https://pubmed.ncbi.nlm.nih.gov/31658987/
3. Yu, Xuehui, Yuan, Lamei, Deng, Sheng, Cao, Xiao, Deng, Hao. 2022. Identification of DNAH17 Variants in Han-Chinese Patients With Left-Right Asymmetry Disorders. In Frontiers in genetics, 13, 862292. doi:10.3389/fgene.2022.862292. https://pubmed.ncbi.nlm.nih.gov/35692830/
4. Chen, Liling, Ouyang, Jiamin, Li, Xueqing, Liao, Yuandongs, Zhang, Qingjiong. . DNAH17 is essential for rat spermatogenesis and fertility. In Journal of genetics, 100, . doi:. https://pubmed.ncbi.nlm.nih.gov/33764336/
5. Chen, Zhongzhong, Lei, Yunping, Finnell, Richard H, Xie, Hua, Chen, Fang. 2023. Whole-exome sequencing study of hypospadias. In iScience, 26, 106663. doi:10.1016/j.isci.2023.106663. https://pubmed.ncbi.nlm.nih.gov/37168556/
6. Sha, Yanwei, Wei, Xiaoli, Ding, Lu, Zhang, Yi, Ji, Zhiyong. 2019. DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella. In Annals of human genetics, 84, 271-279. doi:10.1111/ahg.12369. https://pubmed.ncbi.nlm.nih.gov/31841227/
7. Ge, Yugang, Cang, Hui, Xiao, Jian, Wang, Biao, Shao, Qing. 2024. LncRNA DNAH17-AS1 promotes gastric cancer proliferation and radioresistance by sponging miR-202-3p to upregulate ONECUT2. In Discover oncology, 15, 432. doi:10.1007/s12672-024-01297-2. https://pubmed.ncbi.nlm.nih.gov/39261362/
8. Zhang, Beibei, Khan, Ihsan, Liu, Chunyu, Ma, Hui, Shi, Qinghua. 2020. Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice. In Clinical genetics, 99, 176-186. doi:10.1111/cge.13866. https://pubmed.ncbi.nlm.nih.gov/33070343/
9. Xu, Tao, Lei, Ting, Li, Si-Qiao, Ding, Fei-Hu, Niu, Bin. . DNAH17-AS1 promotes pancreatic carcinoma by increasing PPME1 expression via inhibition of miR-432-5p. In World journal of gastroenterology, 26, 1745-1757. doi:10.3748/wjg.v26.i15.1745. https://pubmed.ncbi.nlm.nih.gov/32351291/
10. Fan, Xiaoxiao, Guo, Hongbin, Dai, Binghua, Zhou, Daizhan, Lin, Hui. 2018. The association between methylation patterns of DNAH17 and clinicopathological factors in hepatocellular carcinoma. In Cancer medicine, 8, 337-350. doi:10.1002/cam4.1930. https://pubmed.ncbi.nlm.nih.gov/30575322/