Hnf1b-flox 基因敲除小鼠

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产品名称

Hnf1b-flox 基因敲除小鼠

产品编号

S-CKO-05795

品系全称

C57BL/6JCya-Hnf1bem1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-21410-Hnf1b-B6J-VA

品系状态

使用本品系发表的文献需注明: Hnf1b-flox 基因敲除小鼠 mice (Strain S-CKO-05795) 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
HNF1 homeobox B
基因别称
HNF-1-beta,HNF-1B,HNF-1Beta,Hnf1beta,LFB3,Tcf-2,Tcf2,vHNF1
染色体号
Chr 11 (Mouse)
转录本 ID
NCBI: NM_009330 | Ensembl: ENSMUST00000021016
修饰方式
条件性基因敲除
靶向范围
Exon 2
敲除长度
~1.0 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:98505Homozygotes for targeted null mutations exhibit reduced size, impaired development of extraembryonic membranes, lack of visceral or parietal endoderm, and early post-implantation lethality. Mice heterozygous for a splice mutation suffer from hyperglycemia, pancreas inflammation and other pancreatic phenotypes.
HNF1B,也称为肝细胞核因子1β,是一种重要的转录因子,位于染色体17q12上。它在多种器官的发育过程中起着关键作用,尤其是在胚胎早期和晚期的器官上皮细胞分化中。HNF1B主要通过调节细胞周期和凋亡途径来发挥作用,影响多个器官系统的发育,包括肾脏、胰腺、肝脏、神经系统和生殖泌尿系统。HNF1B的突变或缺失与多种疾病相关,包括肾脏畸形、糖尿病、肝脏疾病、神经发育障碍等[1,2,3,4,5,6,7,8,9,10]。

HNF1B在肾脏发育和功能中起着重要作用。HNF1B突变是先天性肾脏畸形的最常见遗传原因之一,包括多囊肾、肾脏发育不全、肾脏结构异常、肾脏和泌尿道先天异常(CAKUT)等[1,2,3,6,9]。HNF1B突变还会导致肾脏功能异常,如高尿酸血症和低镁血症等[3,6]。

HNF1B在胰腺发育和功能中也起着重要作用。HNF1B突变是青少年成熟期糖尿病(MODY)的最常见原因之一,这是一种以胰岛素分泌缺陷为特征的糖尿病类型[1,2,4]。HNF1B突变还会导致胰腺囊肿和胰腺发育不全等胰腺疾病[4,6]。

HNF1B在肝脏发育和功能中也起着重要作用。HNF1B突变会导致肝脏功能异常,如转氨酶升高、肝脏疾病等[2]。HNF1B突变还与肝脏肿瘤的发生发展相关[2]。

HNF1B在神经系统和生殖泌尿系统发育中也有重要作用。HNF1B突变会导致神经发育障碍,如自闭症谱系障碍(ASD)、学习困难等[1,3]。HNF1B突变还会导致生殖泌尿系统畸形[3]。

综上所述,HNF1B是一种重要的转录因子,在多个器官系统的发育和功能中起着重要作用。HNF1B的突变或缺失与多种疾病相关,包括肾脏畸形、糖尿病、肝脏疾病、神经发育障碍等。进一步研究HNF1B的分子机制和基因型-表型相关性,将有助于更好地理解HNF1B相关疾病的发病机制,为临床管理和患者护理提供新的思路和策略。

参考文献:
1. Nittel, Clara Marie, Dobelke, Frederike, König, Jens, Kamp-Becker, Inge, Weber, Stefanie. 2023. Review of neurodevelopmental disorders in patients with HNF1B gene variations. In Frontiers in pediatrics, 11, 1149875. doi:10.3389/fped.2023.1149875. https://pubmed.ncbi.nlm.nih.gov/36969268/
2. Gambella, Alessandro, Kalantari, Silvia, Cadamuro, Massimiliano, Fabris, Luca, Pinon, Michele. 2023. The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored. In Cells, 12, . doi:10.3390/cells12020307. https://pubmed.ncbi.nlm.nih.gov/36672242/
3. Bockenhauer, Detlef, Jaureguiberry, Graciana. 2015. HNF1B-associated clinical phenotypes: the kidney and beyond. In Pediatric nephrology (Berlin, Germany), 31, 707-14. doi:10.1007/s00467-015-3142-2. https://pubmed.ncbi.nlm.nih.gov/26160100/
4. Dotto, Renata P, Santana, Lucas Santos de, Lindsey, Susan C, Giuffrida, Fernando M A, Reis, André F. 2019. Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia. In Archives of endocrinology and metabolism, 63, 250-257. doi:10.20945/2359-3997000000138. https://pubmed.ncbi.nlm.nih.gov/31066763/
5. Tarnowski, Maciej, Malinowski, Damian, Safranow, Krzysztof, Dziedziejko, Violetta, Pawlik, Andrzej. 2017. HNF1B, TSPAN8 and NOTCH2 gene polymorphisms in women with gestational diabetes. In The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 31, 837-842. doi:10.1080/14767058.2017.1297793. https://pubmed.ncbi.nlm.nih.gov/28274157/
6. Sánchez-Cazorla, Eloísa, Carrera, Noa, García-González, Miguel Ángel. 2024. HNF1B Transcription Factor: Key Regulator in Renal Physiology and Pathogenesis. In International journal of molecular sciences, 25, . doi:10.3390/ijms251910609. https://pubmed.ncbi.nlm.nih.gov/39408938/
7. Kato, Hiroyuki, Tateishi, Keisuke, Fujiwara, Hiroaki, Fujishiro, Mitsuhiro, Koike, Kazuhiko. 2021. MNX1-HNF1B Axis Is Indispensable for Intraductal Papillary Mucinous Neoplasm Lineages. In Gastroenterology, 162, 1272-1287.e16. doi:10.1053/j.gastro.2021.12.254. https://pubmed.ncbi.nlm.nih.gov/34953915/
8. Zhang, Yan, Zeng, Lina, Lin, Li, Dong, Xian. . [Analysis of HNF1B gene variant in a fetus featuring infantile polycystic kidney disease]. In Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 39, 205-208. doi:10.3760/cma.j.cn511374-20210109-00024. https://pubmed.ncbi.nlm.nih.gov/35076921/
9. Grand, Kelli, Stoltz, Martine, Rizzo, Ludovica, Pichler, Roman, Lienkamp, Soeren S. 2022. HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes. In Journal of the American Society of Nephrology : JASN, 34, 412-432. doi:10.1681/ASN.2022010076. https://pubmed.ncbi.nlm.nih.gov/36522156/
10. Nassar, Amin H, Abou Alaiwi, Sarah, Baca, Sylvan C, Kwiatkowski, David J, Freedman, Matthew L. 2023. Epigenomic charting and functional annotation of risk loci in renal cell carcinoma. In Nature communications, 14, 346. doi:10.1038/s41467-023-35833-5. https://pubmed.ncbi.nlm.nih.gov/36681680/