Hsd17b3-KO 基因敲除小鼠

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产品名称

Hsd17b3-KO 基因敲除小鼠

产品编号

S-KO-02521

品系全称

C57BL/6JCya-Hsd17b3em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-15487-Hsd17b3-B6J-VA

品系状态

使用本品系发表的文献需注明: Hsd17b3-KO 基因敲除小鼠 mice (Strain S-KO-02521) 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
hydroxysteroid (17-beta) dehydrogenase 3
基因别称
-
染色体号
Chr 13 (Mouse)
转录本 ID
NCBI: NM_008291.3 | Ensembl: ENSMUST00000166224
修饰方式
全身性基因敲除
靶向范围
Exon 3~4
敲除长度
~2587 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
HSD17B3,也称为17β-羟基类固醇脱氢酶3,是一种在哺乳动物中广泛表达的酶,主要在睾丸组织中发挥作用。HSD17B3负责将Δ4-雄烯二酮(androstenedione)转化为睾酮,这是睾酮生物合成过程中的关键步骤。睾酮是主要的男性性激素,对男性性发育和生殖功能至关重要。HSD17B3的缺陷会导致睾酮水平低下,进而引发46,XY性发育障碍(DSD),表现为男性性器官发育不全或女性化特征。因此,HSD17B3在男性性发育中扮演着至关重要的角色[2][4][5][7][8]。

在雌性哺乳动物中,HSD17B3也参与雌激素的合成,对生殖系统的发展和功能起到调节作用。有研究发现,HSD17B3基因的插入/缺失(indel)突变与牛卵巢的形态学特征和成熟卵泡数量有关[1]。这些突变可能会影响HSD17B3的转录水平,进而影响卵巢的重量、体积和成熟卵泡的数量,从而对牛的繁殖力产生影响。这些发现为利用HSD17B3基因作为分子标记进行辅助选择(MAS)育种提供了理论基础,有助于优化雌性繁殖力并提高乳牛产业的经济效益[1]。

此外,HSD17B3基因的突变还与人类的一些疾病有关。例如,HSD17B3基因的突变会导致17β-HSD3缺乏症,这是一种罕见的遗传性疾病,患者由于睾酮水平低下,会出现男性性器官发育不全或女性化特征[2][4][5][7][8]。此外,HSD17B3基因的突变还与结直肠癌、糖尿病心肌病和动脉粥样硬化等疾病有关[3][6]。

总之,HSD17B3是一种重要的酶,在男性性发育和生殖功能中发挥着重要作用。HSD17B3基因的突变会导致多种疾病,包括性发育障碍、结直肠癌、糖尿病心肌病和动脉粥样硬化等。研究HSD17B3基因的突变和功能,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. Li, Jie, Zhang, Shaoli, Shen, Chenglong, Wang, Yongsheng, Lan, Xianyong. 2021. Indel mutations within the bovine HSD17B3 gene are significantly associated with ovary morphological traits and mature follicle number. In The Journal of steroid biochemistry and molecular biology, 209, 105833. doi:10.1016/j.jsbmb.2021.105833. https://pubmed.ncbi.nlm.nih.gov/33524543/
2. Ben Rhouma, Bochra, Belguith, Neila, Mnif, Mouna Feki, Abid, Mohamed, Fakhfakh, Faiza. 2012. A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity. In The journal of sexual medicine, 10, 2586-9. doi:10.1111/j.1743-6109.2012.02763.x. https://pubmed.ncbi.nlm.nih.gov/22594312/
3. Ben Rhouma, Bochra, Kley, Manuel, Kallabi, Fakhri, Odermatt, Alex, Belguith, Neila. 2022. Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population. In The Journal of steroid biochemistry and molecular biology, 227, 106235. doi:10.1016/j.jsbmb.2022.106235. https://pubmed.ncbi.nlm.nih.gov/36563763/
4. Cocchetti, Carlotta, Baldinotti, Fulvia, Romani, Alessia, Maggi, Mario, Fisher, Alessandra Daphne. 2022. A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development. In Sexual medicine, 10, 100522. doi:10.1016/j.esxm.2022.100522. https://pubmed.ncbi.nlm.nih.gov/35588601/
5. Islam, Mohammad Sayful, Uwada, Junsuke, Hayashi, Junki, Sekiguchi, Toshio, Yazawa, Takashi. 2021. Analyses of Molecular Characteristics and Enzymatic Activities of Ovine HSD17B3. In Animals : an open access journal from MDPI, 11, . doi:10.3390/ani11102876. https://pubmed.ncbi.nlm.nih.gov/34679897/
6. Bertalan, Rita, Admoni, Osnat, Bashamboo, Anu, Tenenbaum-Rakover, Yardena, McElreavey, Kenneth. 2017. A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing. In Clinical endocrinology, 87, 407-408. doi:10.1111/cen.13396. https://pubmed.ncbi.nlm.nih.gov/28617986/
7. Engeli, Roger T, Tsachaki, Maria, Hassan, Heba A, Mazen, Inas, Odermatt, Alex. . Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients. In The journal of sexual medicine, 14, 1165-1174. doi:10.1016/j.jsxm.2017.07.006. https://pubmed.ncbi.nlm.nih.gov/28859874/
8. Levy-Khademi, Floris, Zeligson, Sharon, Lavi, Eran, Zangen, David, Segel, Reeval. 2020. The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD. In Endocrine, 69, 650-654. doi:10.1007/s12020-020-02327-z. https://pubmed.ncbi.nlm.nih.gov/32372306/