Slc5a5-KO 基因敲除小鼠

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产品名称

Slc5a5-KO 基因敲除小鼠

产品编号

S-KO-00860

品系全称

C57BL/6JCya-Slc5a5em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-114479-Slc5a5-B6J-VA

品系状态

使用本品系发表的文献需注明: Slc5a5-KO 基因敲除小鼠 mice (Strain S-KO-00860) 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
solute carrier family 5 (sodium iodide symporter), member 5
基因别称
NIS
染色体号
Chr 8 (Mouse)
转录本 ID
NCBI: NM_053248 | Ensembl: ENSMUST00000000809
修饰方式
全身性基因敲除
靶向范围
Exon 1~15
敲除长度
~9.4 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:2149330Mice homozygous for a knock-out allele exhibit reduced T3 and T4 levels when fed a minimal iodine diet.
Slc5a5,也称为NIS(钠/碘同向转运蛋白),是一种高度专业化和高效的80-90 kDa跨膜糖蛋白,负责将碘从血液中主动转运到滤泡细胞中[1]。NIS蛋白在甲状腺激素的生理和病理过程中发挥着重要作用,其功能异常与多种甲状腺疾病的发生发展密切相关[2]。NIS基因位于19号染色体(19p13.11),其编码的NIS蛋白在甲状腺滤泡细胞中表达,是甲状腺激素合成过程中不可或缺的关键分子[3]。

在甲状腺疾病中,NIS基因的突变和变异与多种疾病的发生发展密切相关。例如,在甲状腺癌中,NIS基因的表达下调与肿瘤的发生和进展相关[4]。此外,NIS基因的突变和变异也与先天性甲状腺功能减退症(CH)的发生相关[5]。CH是一种常见的先天性内分泌疾病,其发病机制包括甲状腺发育不全、甲状腺激素合成障碍和碘转运缺陷等[6]。NIS基因突变导致的碘转运缺陷是CH的常见原因之一[7]。

此外,NIS基因的变异还与碘在母乳中的转运有关[8]。母乳是婴儿获取碘的重要来源,NIS基因的变异可能影响碘在母乳中的转运效率,进而影响婴儿的碘营养状况[9]。

综上所述,NIS基因在甲状腺激素的生理和病理过程中发挥着重要作用,其编码的NIS蛋白在甲状腺滤泡细胞中表达,负责将碘从血液中主动转运到滤泡细胞中。NIS基因的突变和变异与多种甲状腺疾病的发生发展密切相关,包括甲状腺癌和先天性甲状腺功能减退症等。NIS基因的变异还可能影响碘在母乳中的转运,进而影响婴儿的碘营养状况。因此,深入研究NIS基因的功能和变异对于理解甲状腺疾病的发病机制和防治具有重要意义。

参考文献:
1. de Morais, Rafael Martins, Sobrinho, Alaor Barra, de Souza Silva, Calliandra Maria, da Silva, Izabel Cristina Rodrigues, de Toledo Nóbrega, Otávio. 2018. The Role of the NIS (SLC5A5) Gene in Papillary Thyroid Cancer: A Systematic Review. In International journal of endocrinology, 2018, 9128754. doi:10.1155/2018/9128754. https://pubmed.ncbi.nlm.nih.gov/30595693/
2. Kostopoulou, Eirini, Miliordos, Konstantinos, Spiliotis, Bessie. 2021. Genetics of primary congenital hypothyroidism-a review. In Hormones (Athens, Greece), 20, 225-236. doi:10.1007/s42000-020-00267-x. https://pubmed.ncbi.nlm.nih.gov/33400193/
3. Geysels, Romina Celeste, Bernal Barquero, Carlos Eduardo, Martín, Mariano, Miras, Mirta Beatriz, Nicola, Juan Pablo. 2022. Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism. In Frontiers in endocrinology, 13, 868891. doi:10.3389/fendo.2022.868891. https://pubmed.ncbi.nlm.nih.gov/35600585/
4. Petersen, Ann M, Small, Clayton M, Yan, Yi-Lin, Cresko, William A, Postlethwait, John H. 2022. Evolution and developmental expression of the sodium-iodide symporter (NIS, slc5a5) gene family: Implications for perchlorate toxicology. In Evolutionary applications, 15, 1079-1098. doi:10.1111/eva.13424. https://pubmed.ncbi.nlm.nih.gov/35899258/
5. Siro, Sicelosethu S, Baumgartner, Jeannine, Schoonen, Maryke, Smuts, Cornelius M, Zandberg, Lizelle. 2021. Characterization of Genetic Variants in the SLC5A5 Gene and Associations With Breast Milk Iodine Concentration in Lactating Women of African Descent: The NUPED Study. In Frontiers in nutrition, 8, 692504. doi:10.3389/fnut.2021.692504. https://pubmed.ncbi.nlm.nih.gov/34368208/
6. Hoang, Tung, Lee, Eun Kyung, Lee, Jeonghee, Hwangbo, Yul, Kim, Jeongseon. 2022. Seaweed and Iodine Intakes and SLC5A5 rs77277498 in Relation to Thyroid Cancer. In Endocrinology and metabolism (Seoul, Korea), 37, 513-523. doi:10.3803/EnM.2021.1306. https://pubmed.ncbi.nlm.nih.gov/35607818/
7. Chen, Xi, Kong, Xiaohong, Zhu, Jie, Ding, Guifeng, Wang, Huijuan. 2018. Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis. In International journal of endocrinology, 2018, 8986475. doi:10.1155/2018/8986475. https://pubmed.ncbi.nlm.nih.gov/30154845/
8. Zhang, Hai-Yang, Wu, Feng-Yao, Zhang, Cao-Xu, Song, Huai-Dong, Zhao, Shuang-Xia. 2024. Contactin 6, A Novel Causative Gene for Congenital Hypothyroidism, Mediates Thyroid Hormone Biosynthesis Through Notch Signaling. In Thyroid : official journal of the American Thyroid Association, 34, 324-335. doi:10.1089/thy.2023.0594. https://pubmed.ncbi.nlm.nih.gov/38183624/
9. Wang, Huijuan, Kong, Xiaohong, Pei, Yanrui, Chen, Chao, Yan, Xiaoli. 2020. Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism. In Molecular medicine reports, 22, 297-309. doi:10.3892/mmr.2020.11078. https://pubmed.ncbi.nlm.nih.gov/32319661/