Rogdi-KO 基因敲除小鼠

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产品名称

Rogdi-KO 基因敲除小鼠

产品编号

S-KO-16078

品系全称

C57BL/6JCya-Rogdiem1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-66049-Rogdi-B6J-VA

品系状态

使用本品系发表的文献需注明: Rogdi-KO 基因敲除小鼠 mice (Strain S-KO-16078) 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
rogdi homolog
基因别称
0610011C19Rik,Lzf
染色体号
Chr 16 (Mouse)
转录本 ID
NCBI: NM_133185 | Ensembl: ENSMUST00000202281
修饰方式
全身性基因敲除
靶向范围
Exon 5~9
敲除长度
~2.3 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:1913299Mice lacking exons 6-11 exhibit hyperactivity, memory deficits, increased susceptibility to induced seizures, less mature enamel that is hypomineralized, and recapitulate Kohlschutter-Tonz syndrome.
Rogdi,即ROGDI(Rab GTPase-activating protein domain-containing protein I),是一种在人体中编码Rab GTPase激活蛋白结构域的蛋白质的基因。Rab GTPases是一类在细胞内囊泡运输中起关键作用的蛋白质,它们通过结合GTP或GDP来控制囊泡的形成、运输和融合。Rogdi蛋白通过与Rab GTPases相互作用,调控其活性,进而影响囊泡运输过程。此外,Rogdi还与细胞骨架蛋白相互作用,参与细胞形态维持和运动。

Rogdi基因突变与Kohlschütter-Tönz综合征(KTZS)相关。KTZS是一种罕见的常染色体隐性遗传病,主要表现为癫痫、精神运动发育迟缓和牙齿发育不良。研究发现,Rogdi基因突变导致其编码的蛋白质功能丧失,进而影响囊泡运输和细胞骨架稳定性,导致神经系统和牙齿发育异常。

SLC13A5是另一种与KTZS相关的基因。SLC13A5基因编码一种名为钠/锂/氯共转运蛋白的蛋白质,该蛋白质在细胞内离子转运中起重要作用。研究发现,SLC13A5基因突变同样导致其编码的蛋白质功能丧失,进而影响细胞内离子平衡,导致神经系统和牙齿发育异常。

Rogdi基因突变还与自闭症谱系障碍(ASD)相关。研究发现,Rogdi基因突变导致其编码的蛋白质功能丧失,进而影响神经系统的发育和功能,导致ASD的发生。此外,Rogdi基因突变还与肿瘤的放射敏感性相关。研究发现,Rogdi基因突变导致其编码的蛋白质功能丧失,进而影响细胞周期和DNA损伤修复,使肿瘤细胞对放射治疗更加敏感。

综上所述,Rogdi基因在人体中具有重要作用,其突变与多种疾病相关,包括Kohlschütter-Tönz综合征、自闭症谱系障碍和肿瘤等。深入研究Rogdi基因的功能和突变机制,有助于揭示这些疾病的发病机制,为疾病的诊断、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. Schossig, Anna, Bloch-Zupan, Agnès, Lussi, Adrian, Zschocke, Johannes, Kapferer-Seebacher, Ines. 2016. SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. In Journal of medical genetics, 54, 54-62. doi:10.1136/jmedgenet-2016-103988. https://pubmed.ncbi.nlm.nih.gov/27600704/
2. Riemann, Donatus, Wallrafen, Rebecca, Dresbach, Thomas. 2017. The Kohlschütter-Tönz syndrome associated gene Rogdi encodes a novel presynaptic protein. In Scientific reports, 7, 15791. doi:10.1038/s41598-017-16004-1. https://pubmed.ncbi.nlm.nih.gov/29150638/
3. Aswath, Nalini, Ramakrishnan, Sankar Narayanan, Teresa, Nithya, Ramanathan, Arvind. 2017. A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome. In Oral surgery, oral medicine, oral pathology and oral radiology, 125, e8-e11. doi:10.1016/j.oooo.2017.09.016. https://pubmed.ncbi.nlm.nih.gov/29153277/
4. Doan, Ryan N, Lim, Elaine T, De Rubeis, Silvia, Buxbaum, Joseph D, Yu, Timothy W. 2019. Recessive gene disruptions in autism spectrum disorder. In Nature genetics, 51, 1092-1098. doi:10.1038/s41588-019-0433-8. https://pubmed.ncbi.nlm.nih.gov/31209396/
5. Huckert, Mathilde, Mecili, Helen, Laugel-Haushalter, Virginie, Dollfus, Hélène, Bloch-Zupan, Agnès. 2014. A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome. In Molecular syndromology, 5, 293-8. doi:10.1159/000366252. https://pubmed.ncbi.nlm.nih.gov/25565929/
6. Jimenez-Armijo, Alexandra, Morkmued, Supawich, Ahumada, José Tomás, Hernandez, Magali, Bloch-Zupan, Agnès. 2024. The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome. In Scientific reports, 14, 445. doi:10.1038/s41598-023-50870-2. https://pubmed.ncbi.nlm.nih.gov/38172607/
7. Chen, Yi-Fan, Cho, Jonathan J, Huang, Tsai-Hua, Huang, Eng-Yen, Cho, Chung-Lung. 2016. Downregulation of a novel human gene, ROGDI, increases radiosensitivity in cervical cancer cells. In Cancer biology & therapy, 17, 1070-1078. doi:10.1080/15384047.2016.1219818. https://pubmed.ncbi.nlm.nih.gov/27636029/
8. Spanu, Francesca, Scherm, Barbara, Camboni, Irene, Pasquali, Matias, Migheli, Quirico. 2017. FcRav2, a gene with a ROGDI domain involved in Fusarium head blight and crown rot on durum wheat caused by Fusarium culmorum. In Molecular plant pathology, 19, 677-688. doi:10.1111/mpp.12551. https://pubmed.ncbi.nlm.nih.gov/28322011/
9. Meng, Linxue, Huang, Dishu, Xie, Lingling, Zhang, Xiaofang, Jiang, Li. 2023. Perampanel effectiveness in treating ROGDI-related Kohlschütter-Tönz syndrome: first reported case in China and literature review. In BMC medical genomics, 16, 292. doi:10.1186/s12920-023-01728-z. https://pubmed.ncbi.nlm.nih.gov/37974187/
10. Liepina, Lelde, Kalnina, Marija Luize, Micule, Ieva, Strautmanis, Jurgis, Celmina, Marta. 2021. Kohlschütter-Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants. In American journal of medical genetics. Part A, 188, 1263-1279. doi:10.1002/ajmg.a.62613. https://pubmed.ncbi.nlm.nih.gov/34939736/