Tcn2-KO 基因敲除小鼠

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产品名称

Tcn2-KO 基因敲除小鼠

产品编号

S-KO-05027

品系全称

C57BL/6NCya-Tcn2em1/Cya

品系背景

C57BL/6NCya

品系编号

KOCMP-21452-Tcn2-B6N-VB

品系状态

使用本品系发表的文献需注明: Tcn2-KO 基因敲除小鼠 mice (Strain S-KO-05027) 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
transcobalamin 2
基因别称
Tcn-2
染色体号
Chr 11 (Mouse)
转录本 ID
NCBI: NM_001130458 | Ensembl: ENSMUST00000109993
修饰方式
全身性基因敲除
靶向范围
Exon 3
敲除长度
~1.3 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:98534This locus controls transcobalamin-2 electrophoretic variation. The s allele determines a slow band in serum from A/J, C57BL/6, BALB/c and C3H/He; the f allele determines faster form in NZB, ST/b and CPB-WV. Heterozygotes have both forms. Sequencing reveals a Gly to Glu substitution in NZB compared to BALB/c, DBA/2 and C57BL/6 (Genbank AF090686).
TCN2,也称为转钴胺素II(Transcobalamin II, TC II),是一种重要的血浆蛋白,负责维生素 B12 的吸收、运输和细胞摄取。TCN2 基因突变会导致 TC II 缺乏症,这是一种罕见的常染色体隐性遗传病,患者会出现生长发育迟缓、腹泻、苍白、贫血、全血细胞减少和免疫缺陷等症状[1,4,7]。TCN2 缺乏症的诊断通常需要通过 TCN2 基因的遗传分析来完成。

TCN2 基因突变会导致 TC II 功能丧失,进而导致维生素 B12 在细胞内摄取不足。维生素 B12 是一种重要的辅酶,参与多种生物学过程,包括 DNA 合成、脂肪酸代谢和神经系统发育等。维生素 B12 缺乏会导致细胞功能障碍和多种疾病,包括巨幼细胞性贫血、神经退行性疾病和心血管疾病等。

除了 TCN2 缺乏症,TCN2 基因还与其他多种疾病相关。例如,TCN2 基因突变与甲状腺癌的风险增加相关[5]。此外,TCN2 基因的遗传变异还与高血压和血压水平相关[8]。TCN2 基因的遗传变异还与阿尔茨海默病的易感性相关[2]。

TCN2 基因的遗传变异还与维生素 B12 和叶酸水平相关[3]。TCN2 基因的遗传变异还与肾功能相关[6]。

总之,TCN2 基因是一种重要的基因,参与多种生物学过程和疾病的发生。TCN2 基因的遗传变异与多种疾病相关,包括 TCN2 缺乏症、甲状腺癌、高血压、阿尔茨海默病和肾功能不全等。对 TCN2 基因的研究有助于深入理解这些疾病的发病机制,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Kose, Engin, Besci, Ozge, Gudeloglu, Elif, Ozen, Selime, Isguder, Rana. . Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature. In Journal of pediatric endocrinology & metabolism : JPEM, 33, 1487-1499. doi:10.1515/jpem-2020-0096. https://pubmed.ncbi.nlm.nih.gov/32841161/
2. Ge, Yi-Jun, Chen, Shi-Dong, Wu, Bang-Sheng, Jia, Jian-Ping, Yu, Jin-Tai. 2024. Genome-wide meta-analysis identifies ancestry-specific loci for Alzheimer's disease. In Alzheimer's & dementia : the journal of the Alzheimer's Association, 20, 6243-6256. doi:10.1002/alz.14121. https://pubmed.ncbi.nlm.nih.gov/39023044/
3. Grarup, Niels, Sulem, Patrick, Sandholt, Camilla H, Stefánsson, Kari, Pedersen, Oluf. 2013. Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets. In PLoS genetics, 9, e1003530. doi:10.1371/journal.pgen.1003530. https://pubmed.ncbi.nlm.nih.gov/23754956/
4. Luo, Juan, Guo, Hongxi, Feng, Lifang, Yao, Hui, Chen, Xiaohong. 2022. Case report: Novel compound-heterozygous mutations in the TCN2 gene identified in a chinese girl with transcobalamin deficiency. In Frontiers in genetics, 13, 951007. doi:10.3389/fgene.2022.951007. https://pubmed.ncbi.nlm.nih.gov/36035190/
5. Sun, Hong, Li, Ling, Yan, Jingchao, Huang, Taomin. 2024. Prioritization of drug targets for thyroid cancer: a multi-omics Mendelian randomization study. In Endocrine, 86, 732-743. doi:10.1007/s12020-024-03933-x. https://pubmed.ncbi.nlm.nih.gov/38896366/
6. Lanktree, Matthew B, Perrot, Nicolas, Smyth, Andrew, Yusuf, Salim, Paré, Guillaume. 2023. A novel multi-ancestry proteome-wide Mendelian randomization study implicates extracellular proteins, tubular cells, and fibroblasts in estimated glomerular filtration rate regulation. In Kidney international, 104, 1170-1184. doi:10.1016/j.kint.2023.08.025. https://pubmed.ncbi.nlm.nih.gov/37774922/
7. Zhan, Shihong, Cheng, Fangfang, He, Hailong, Hu, Shaoyan, Feng, Xing. 2020. Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report. In BMC pediatrics, 20, 460. doi:10.1186/s12887-020-02357-6. https://pubmed.ncbi.nlm.nih.gov/33023511/
8. Liu, Shan, Liu, Mengwei, Li, Qian, Nie, Fangfang, Liu, Wanyang. . Association of single nucleotide polymorphisms of MTHFR, TCN2, RNF213 with susceptibility to hypertension and blood pressure. In Bioscience reports, 39, . doi:10.1042/BSR20191454. https://pubmed.ncbi.nlm.nih.gov/31815282/