Tecrl-KO 基因敲除小鼠

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产品名称

Tecrl-KO 基因敲除小鼠

产品编号

S-KO-07417

品系全称

C57BL/6JCya-Tecrlem1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-243078-Tecrl-B6J-VA

品系状态

使用本品系发表的文献需注明: Tecrl-KO 基因敲除小鼠 mice (Strain S-KO-07417) 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
trans-2,3-enoyl-CoA reductase-like
基因别称
D330017N19Rik,Srd5a2l2
染色体号
Chr 5 (Mouse)
转录本 ID
NCBI: NM_153801.3 | Ensembl: ENSMUST00000053543
修饰方式
全身性基因敲除
靶向范围
Exon 3~4
敲除长度
~4126 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:2444966Homozygous null mice show cardiac dysfunction, impaired mitochondrial respiration in cardiomyocytes, characterized by reduced ATP production and increased reactive oxygen species production, and mitochondrial ultrastructure changes.
TECRL,即trans-2,3-enoyl-CoA reductase-like,是一种与遗传性心律失常相关的基因。它编码的蛋白质在心脏细胞中发挥着调节钙离子运输和信号传导的重要作用。TECRL基因突变导致的遗传性心律失常主要表现为儿茶酚胺性多形性室性心动过速(CPVT)和长QT综合征(LQTS),这两种疾病都是造成儿童和青少年猝死的主要原因[1,2,3,4,5,6,7,8]。

TECRL基因突变可导致CPVT3型,这是一种常染色体隐性遗传病。患者通常表现为运动或情绪激动时发生室性心动过速,严重时可导致晕厥或猝死。TECRL基因突变还会导致LQTS,这是一种心电图表现为QT间期延长的疾病,患者易发生心律失常和猝死[1,2,3,4,5,6,7,8]。

研究发现,TECRL基因突变会影响心脏细胞内钙离子的稳态。TECRL基因突变导致的心脏细胞内钙离子浓度升高,会导致心脏细胞动作电位延长,从而增加心律失常的风险[1,2,3,4,5,6,7,8]。此外,TECRL基因突变还会影响心脏细胞内脂肪酸的代谢,进而影响心脏细胞的功能[7]。

TECRL基因突变导致的CPVT和LQTS的治疗主要包括药物治疗和植入式心脏复律除颤器(ICD)。药物治疗主要包括β受体阻滞剂和钙通道阻滞剂,可减轻症状并降低猝死风险[1,2,3,4,5,6,7,8]。ICD是一种植入心脏的设备,可监测心律并自动进行电击复律,是预防猝死的有效手段[1,2,3,4,5,6,7,8]。

TECRL基因突变导致的CPVT和LQTS是一种严重的遗传性心律失常,患者需要及时诊断和治疗。随着基因检测技术的不断发展,越来越多的患者能够得到准确的诊断和有效的治疗。未来,随着对TECRL基因功能研究的深入,有望开发出更多针对TECRL基因突变的治疗方法,为患者提供更好的治疗选择[1,2,3,4,5,6,7,8]。

参考文献:
1. Xie, Lijian, Hou, Cuilan, Jiang, Xunwei, Li, Yun, Xiao, Tingting. 2019. A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family. In European journal of medical genetics, 62, 103631. doi:10.1016/j.ejmg.2019.01.018. https://pubmed.ncbi.nlm.nih.gov/30790670/
2. Devalla, Harsha D, Gélinas, Roselle, Aburawi, Elhadi H, Bhuiyan, Zahurul A, Passier, Robert. 2016. TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT. In EMBO molecular medicine, 8, 1390-1408. doi:10.15252/emmm.201505719. https://pubmed.ncbi.nlm.nih.gov/27861123/
3. Porretta, Alessandra Pia, Le Bloa, Mathieu, Bhuiyan, Zahurul Alam, Extramiana, Fabrice, Pruvot, Etienne. 2025. Arrhythmogenic Potential of Heterozygous TECRL Variants in Type 3 Catecholaminergic Polymorphic Ventricular Tachycardia. In JACC. Clinical electrophysiology, , . doi:10.1016/j.jacep.2024.12.015. https://pubmed.ncbi.nlm.nih.gov/39945714/
4. Walsh, Roddy, Adler, Arnon, Amin, Ahmad S, Wilde, Arthur A M, Gollob, Michael H. . Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death. In European heart journal, 43, 1500-1510. doi:10.1093/eurheartj/ehab687. https://pubmed.ncbi.nlm.nih.gov/34557911/
5. Perry, Matthew D, Vandenberg, Jamie I. 2016. TECRL: connecting sequence to consequence for a new sudden cardiac death gene. In EMBO molecular medicine, 8, 1364-1365. doi:10.15252/emmm.201606967. https://pubmed.ncbi.nlm.nih.gov/27784710/
6. Jones, Douglas, Hartung, Jacob, Lasalle, Elizabeth, Kingsmore, Stephen F, Coufal, Nicole G. 2024. Novel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardia. In Life science alliance, 7, . doi:10.26508/lsa.202402572. https://pubmed.ncbi.nlm.nih.gov/38777371/
7. Lin, Shujia, Chen, Shun, Lin, Qiuping, Hou, Cuilan, Xie, Lijian. 2024. Transcriptome analysis of effects of Tecrl deficiency on cardiometabolic and calcium regulation in cardiac tissue. In Open medicine (Warsaw, Poland), 19, 20230880. doi:10.1515/med-2023-0880. https://pubmed.ncbi.nlm.nih.gov/38283583/
8. Moscu-Gregor, Alexander, Marschall, Christoph, Müntjes, Carsten, Krause, Ulrich, Rost, Imma. 2020. Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms. In Journal of cardiovascular electrophysiology, 31, 1527-1535. doi:10.1111/jce.14446. https://pubmed.ncbi.nlm.nih.gov/32173957/