Dnaaf3-KO 基因敲除小鼠

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产品名称

Dnaaf3-KO 基因敲除小鼠

产品编号

S-KO-10156

品系全称

C57BL/6JCya-Dnaaf3em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-436022-Dnaaf3-B6J-VA

品系状态

使用本品系发表的文献需注明: Dnaaf3-KO 基因敲除小鼠 mice (Strain S-KO-10156) 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 assembly factor 3
基因别称
6030429G01Rik,b2b1739Clo
染色体号
Chr 7 (Mouse)
转录本 ID
NCBI: NM_001033548.3 | Ensembl: ENSMUST00000094897
修饰方式
全身性基因敲除
靶向范围
Exon 4~9
敲除长度
~4454 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:3588207Mice homozygous for an ENU-induced mutation exhibit situs inversus totalis and complex congenital heart disease associated with heterotaxy, abdominal organ situs anomalies and immotile respiratory cilia.
DNAAF3,也称为Primary ciliary dyskinesia-associated gene DNAAF3,是一种与原发性纤毛运动不良(PCD)相关的基因。PCD是一种罕见的常染色体隐性遗传病,其特征是呼吸道的反复感染和不孕症。DNAAF3基因编码的蛋白质在细胞纤毛和鞭毛的轴突中组装和运输轴突动力蛋白复合物中发挥重要作用。动力蛋白是一种高度保守的轴突特异性动力蛋白复合物,为纤毛和鞭毛的运动提供动力。DNAAF3基因的突变会导致动力蛋白的组装和运输受损,从而影响纤毛和鞭毛的运动功能。

在人类中,DNAAF3基因的突变会导致PCD患者出现不同的临床表现,包括内脏转位、鼻窦炎和支气管扩张等。此外,DNAAF3基因的突变也与男性不育症有关,因为这种突变会导致精子鞭毛的动力蛋白臂缺失,从而降低精子活力。这些研究结果表明,DNAAF3基因的突变是PCD和男性不育症的重要遗传因素。

此外,DNAAF3基因的突变也与儿童哮喘的表型有关。研究发现,DNAAF3基因的突变会影响哮喘患者的免疫微环境,从而影响哮喘的表型和免疫反应。这表明DNAAF3基因在哮喘的发生和发展中也可能发挥重要作用。

综上所述,DNAAF3基因在PCD和男性不育症的发生和发展中发挥重要作用。DNAAF3基因的突变会导致纤毛和鞭毛的动力蛋白组装和运输受损,从而影响其运动功能。此外,DNAAF3基因的突变也与儿童哮喘的表型有关,表明DNAAF3基因在哮喘的发生和发展中也可能发挥重要作用。这些研究结果有助于深入理解DNAAF3基因的生物学功能和疾病发生机制,为PCD和男性不育症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. Wan, Feng, Yu, Lan, Qu, Xiaowei, Zhang, Cuilian, Guo, Haibin. 2023. A novel mutation in PCD-associated gene DNAAF3 causes male infertility due to asthenozoospermia. In Journal of cellular and molecular medicine, 27, 3107-3116. doi:10.1111/jcmm.17881. https://pubmed.ncbi.nlm.nih.gov/37537752/
2. 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/
3. Zur Lage, Petra, Xi, Zhiyan, Lennon, Jennifer, von Kriegsheim, Alex, Jarman, Andrew P. 2021. The Drosophila orthologue of the primary ciliary dyskinesia-associated gene, DNAAF3, is required for axonemal dynein assembly. In Biology open, 10, . doi:10.1242/bio.058812. https://pubmed.ncbi.nlm.nih.gov/34553759/
4. Chen, Dongjia, Fan, Guoqing, Xu, Yan, Zhu, Xianqing, Gao, Yong. . A novel homozygous mutation in the DNAAF3 gene leads to severe asthenozoospermia and teratospermia. In Journal of cellular and molecular medicine, 28, e70092. doi:10.1111/jcmm.70092. https://pubmed.ncbi.nlm.nih.gov/39289782/
5. Mitchison, Hannah M, Schmidts, Miriam, Loges, Niki T, Omran, Heymut, Mitchell, David R. 2012. Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. In Nature genetics, 44, 381-9, S1-2. doi:10.1038/ng.1106. https://pubmed.ncbi.nlm.nih.gov/22387996/
6. Jat, Kana Ram, Faruq, Mohammed, Jindal, Shishir, Arava, Sudheer K, Kabra, Sushil K. 2024. Genetics of 67 patients of suspected primary ciliary dyskinesia from India. In Clinical genetics, 106, 650-658. doi:10.1111/cge.14590. https://pubmed.ncbi.nlm.nih.gov/39004944/
7. Himmelreich, Nastassja, Blau, Nenad, Thöny, Beat. 2021. Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies. In Molecular genetics and metabolism, 133, 123-136. doi:10.1016/j.ymgme.2021.04.003. https://pubmed.ncbi.nlm.nih.gov/33903016/
8. Guo, Zhuoyao, Chen, Weicheng, Wang, Libo, Qian, Liling. 2020. Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China. In The Journal of pediatrics, 225, 157-165.e5. doi:10.1016/j.jpeds.2020.05.052. https://pubmed.ncbi.nlm.nih.gov/32502479/
9. Wang, Ting, He, Changhui, Hu, Ming, Li, Yuke, Fan, Chuping. 2022. Subtyping children with asthma by clustering analysis of mRNA expression data. In Frontiers in genetics, 13, 974936. doi:10.3389/fgene.2022.974936. https://pubmed.ncbi.nlm.nih.gov/36159986/
10. Zheng, Haixia, Cheng, Chongsheng, He, Miao, Tian, Xinlun, Liu, Yaping. . Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3. In Molecular genetics & genomic medicine, 13, e70036. doi:10.1002/mgg3.70036. https://pubmed.ncbi.nlm.nih.gov/39764684/