Rttn-flox 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

Rttn-flox 基因敲除小鼠

产品编号

S-CKO-08717

品系全称

C57BL/6JCya-Rttnem1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-246102-Rttn-B6J-VA

品系状态

使用本品系发表的文献需注明: Rttn-flox 基因敲除小鼠 mice (Strain S-CKO-08717) 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
rotatin
基因别称
4921538A15Rik,C530033I08Rik,D230040K24
染色体号
Chr 18 (Mouse)
转录本 ID
NCBI: NM_175542.3 | Ensembl: ENSMUST00000023828
修饰方式
条件性基因敲除
靶向范围
Exon 7
敲除长度
~651 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:2179288Mice homozygous for an insertional mutation exhibit embryonic lethality and neurulation defects resulting in the arrest of gastrulation movements and abnormal left-right specification in the heart.
Rttn,也称为Rotatin,是一种大型中心体蛋白编码基因。Rttn基因编码的蛋白质在细胞周期和细胞分裂过程中发挥重要作用,主要涉及中心体的形成、复制、对称和凝聚、基体组织等方面。Rttn基因突变已被发现与多种人类疾病相关,包括微头畸形、智力障碍、先天性侏儒症、眼病和癫痫等[1,2,3,4,5,6,7,8,9,10]。

Rttn基因突变导致的人类疾病主要与大脑发育异常有关。这些疾病包括微头畸形、智力障碍、先天性侏儒症、眼病和癫痫等[1,2,3,4,5,6,7,8,9,10]。微头畸形是一种以头围明显小于同龄儿童为特征的疾病,常伴有智力障碍和发育迟缓。智力障碍是指个体的智力水平明显低于同龄儿童,且伴有适应行为障碍。先天性侏儒症是指出生时身高明显低于正常新生儿,且伴随生长发育迟缓。眼病包括白内障、斜视、近视等,影响视力。癫痫是一种反复发作的神经系统疾病,表现为短暂的大脑功能异常。

研究表明,Rttn基因突变主要导致中心体功能障碍,进而影响大脑发育和神经元迁移。中心体是细胞分裂过程中形成纺锤体的关键结构,纺锤体负责将染色体分离到两个子细胞中。Rttn基因编码的蛋白质在中心体形成和功能维持中发挥重要作用。当Rttn基因突变导致中心体功能障碍时,细胞分裂过程中染色体分离不正常,进而影响大脑发育和神经元迁移,导致微头畸形、智力障碍等疾病的发生[1,2,3,4,5,6,7,8,9,10]。

Rttn基因突变还可能导致其他疾病,如原发性心肌病、小脑发育不良等。原发性心肌病是一种以心脏肌肉肥厚、心肌纤维化或心肌细胞减少为特征的疾病,常伴有心脏功能不全。小脑发育不良是指小脑发育异常,导致运动协调障碍和平衡功能障碍。研究表明,Rttn基因突变导致中心体功能障碍,进而影响心肌细胞和小脑神经元的发育和功能,导致原发性心肌病和小脑发育不良等疾病的发生[1,2,3,4,5,6,7,8,9,10]。

综上所述,Rttn基因突变导致的人类疾病主要与中心体功能障碍有关,进而影响大脑发育和神经元迁移。Rttn基因突变导致的疾病包括微头畸形、智力障碍、先天性侏儒症、眼病、癫痫、原发性心肌病、小脑发育不良等。深入研究Rttn基因的功能和突变机制,有助于揭示人类疾病的发生机制,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Mudassir, Behjat Ul, Agha, Zehra. 2023. Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in RTTN Gene: A Seckel Syndrome Case Report. In Children (Basel, Switzerland), 10, . doi:10.3390/children10061027. https://pubmed.ncbi.nlm.nih.gov/37371259/
2. Imran Naseer, Muhammad, Abdulrahman Abdulkareem, Angham, Yousef Muthaffar, Osama, Chaudhary, Adeel G. 2021. Exome sequencing reveled a compound heterozygous mutations in RTTN gene causing developmental delay and primary microcephaly. In Saudi journal of biological sciences, 28, 2824-2829. doi:10.1016/j.sjbs.2021.02.014. https://pubmed.ncbi.nlm.nih.gov/34012324/
3. Chun, Young Wook, Miyamoto, Matthew, Williams, Charles H, Su, Yan Ru, Hong, Charles C. 2023. Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated Cardiomyopathy. In Circulation, 147, 1291-1303. doi:10.1161/CIRCULATIONAHA.122.060985. https://pubmed.ncbi.nlm.nih.gov/36970983/
4. Romano, Ferruccio, Amadori, Elisabetta, Madia, Francesca, Zara, Federico, Scala, Marcello. 2023. Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia. In Frontiers in pediatrics, 11, 1326552. doi:10.3389/fped.2023.1326552. https://pubmed.ncbi.nlm.nih.gov/38178912/
5. Chartier, Suzanne, Alby, Caroline, Boutaud, Lucile, Encha Razavi, Férechté, Attie-Bitach, Tania. 2018. A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern. In Birth defects research, 110, 598-602. doi:10.1002/bdr2.1204. https://pubmed.ncbi.nlm.nih.gov/29356416/
6. Cavallin, Mara, Bery, Amandine, Maillard, Camille, Boddaert, Nathalie, Bahi-Buisson, Nadia. 2018. Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction. In European journal of medical genetics, 61, 755-758. doi:10.1016/j.ejmg.2018.08.001. https://pubmed.ncbi.nlm.nih.gov/30121372/
7. Stouffs, Katrien, Moortgat, Stéphanie, Vanderhasselt, Tim, De Meirleir, Linda, Jansen, Anna C. 2018. Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations. In European journal of medical genetics, 61, 733-737. doi:10.1016/j.ejmg.2018.06.001. https://pubmed.ncbi.nlm.nih.gov/29883675/
8. Chen, Hsin-Yi, Wu, Chien-Ting, Tang, Chieh-Ju C, Wang, Won-Jing, Tang, Tang K. 2017. Human microcephaly protein RTTN interacts with STIL and is required to build full-length centrioles. In Nature communications, 8, 247. doi:10.1038/s41467-017-00305-0. https://pubmed.ncbi.nlm.nih.gov/28811500/
9. Zakaria, Muhammad, Fatima, Ambrin, Klar, Joakim, Baig, Shahid M, Dahl, Niklas. 2019. Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42. In Human mutation, 40, 899-903. doi:10.1002/humu.23755. https://pubmed.ncbi.nlm.nih.gov/30927481/
10. Shamseldin, Hanan, Alazami, Anas M, Manning, Melanie, Bernier, Francois P, Alkuraya, Fowzan S. 2015. RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. In American journal of human genetics, 97, 862-8. doi:10.1016/j.ajhg.2015.10.012. https://pubmed.ncbi.nlm.nih.gov/26608784/