Agmo-flox 基因敲除小鼠

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产品名称

Agmo-flox 基因敲除小鼠

产品编号

S-CKO-10326

品系全称

C57BL/6JCya-Agmoem1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-319660-Agmo-B6J-VA

品系状态

使用本品系发表的文献需注明: Agmo-flox 基因敲除小鼠 mice (Strain S-CKO-10326) 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
alkylglycerol monooxygenase
基因别称
A530016O06Rik,Tmem195
染色体号
Chr 12 (Mouse)
转录本 ID
NCBI: NM_178767.5 | Ensembl: ENSMUST00000049874
修饰方式
条件性基因敲除
靶向范围
Exon 4
敲除长度
~604 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:2442495Mice homozygous for a null allele lack alkylglycerol monooxygenase activity but exhibit no overt phenotype under standard housing conditions. Male mice show reduced circulating cholesterol levels and modest increases only in plasmanyl and plasmenyl ether lipids.
AGMO(alkylglycerol monooxygenase)基因编码了一种名为烷基甘油单加氧酶的酶,这是目前已知的唯一能够催化烷基甘油和溶血烷基甘油磷脂分解的酶。AGMO基因的发现使我们能够通过全基因组关联研究将AGMO基因位点的突变与人类疾病联系起来。遗传分析表明,AGMO在多种人类疾病中可能发挥作用,如2型糖尿病、神经发育障碍、癌症和免疫防御。缺乏AGMO导致无法分解储存的含有烷基键的脂质,这会影响整个脂质组成,包括醚脂池以外的部分[1]。

AGMO基因的突变与多种人类疾病相关,包括2型糖尿病、神经发育障碍、癌症和免疫防御。AGMO的缺乏会影响整个脂质组成,包括醚脂池以外的部分。在免疫方面,AGMO在巨噬细胞中调节血小板活化因子(PAF)的产生,通过调节细胞溶血-PAF水平来调节PAF的产生[3]。在能量稳态方面,AGMO在胚胎LR轴的正确发育中起着关键作用,它是Wnt信号通路的调节剂,在形成LR组织者方面发挥作用[2]。在发育方面,AGMO基因的突变会导致原发性小头症和智力障碍,这是神经发育障碍的一种[4,5]。此外,AGMO基因的突变还与自闭症相关[4]。

在模式生物中,AGMO基因的缺失会影响整个脂质池,并进一步影响某些信号级联。例如,在秀丽线虫中,AGMO基因的缺失会导致脆弱的角质层和对细菌病原体的敏感性增加,这是由于AGMO依赖的脂质代谢酶的功能障碍[6]。在基因编辑小鼠模型中,AGMO基因的缺失会导致AGMO酶活性的丧失,从而可以研究AGMO在生理和病理生理学中的作用[7]。

AGMO基因的突变还与人类遗传易感性相关。例如,AGMO基因的突变与结核病和内脏利什曼病的易感性相关[8,9]。此外,AGMO基因的变异还与猪的产仔数性状相关[10]。

综上所述,AGMO基因在多种生物学过程中发挥着重要作用,包括免疫、能量稳态和发育。AGMO基因的突变与多种人类疾病相关,包括2型糖尿病、神经发育障碍、癌症和免疫防御。此外,AGMO基因的突变还与人类遗传易感性相关,包括结核病和内脏利什曼病的易感性。AGMO基因的研究有助于我们深入理解AGMO在生理和病理生理学中的作用,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Sailer, Sabrina, Keller, Markus A, Werner, Ernst R, Watschinger, Katrin. 2021. The Emerging Physiological Role of AGMO 10 Years after Its Gene Identification. In Life (Basel, Switzerland), 11, . doi:10.3390/life11020088. https://pubmed.ncbi.nlm.nih.gov/33530536/
2. Duncan, Anna R, González, Delfina P, Del Viso, Florencia, Khokha, Mustafa K, Griffin, John N. 2019. Alkylglycerol monooxygenase, a heterotaxy candidate gene, regulates left-right patterning via Wnt signaling. In Developmental biology, 456, 1-7. doi:10.1016/j.ydbio.2019.07.019. https://pubmed.ncbi.nlm.nih.gov/31398317/
3. Tokuoka, Suzumi M, Kita, Yoshihiro, Shindou, Hideo, Shimizu, Takao. 2013. Alkylglycerol monooxygenase as a potential modulator for PAF synthesis in macrophages. In Biochemical and biophysical research communications, 436, 306-12. doi:10.1016/j.bbrc.2013.05.099. https://pubmed.ncbi.nlm.nih.gov/23743196/
4. Alrayes, Nuha, Mohamoud, Hussein Sheikh Ali, Ahmed, Saleem, Nasir, Jamal, Jelani, Musharraf. 2016. The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family. In Journal of the neurological sciences, 363, 240-4. doi:10.1016/j.jns.2016.02.063. https://pubmed.ncbi.nlm.nih.gov/27000257/
5. Okur, Volkan, Watschinger, Katrin, Niyazov, Dmitriy, Werner, Ernst R, Chung, Wendy K. 2019. Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder. In Human genetics, 138, 1259-1266. doi:10.1007/s00439-019-02065-x. https://pubmed.ncbi.nlm.nih.gov/31555905/
6. Loer, Curtis M, Calvo, Ana C, Watschinger, Katrin, Werner, Ernst R, Martinez, Aurora. 2015. Cuticle integrity and biogenic amine synthesis in Caenorhabditis elegans require the cofactor tetrahydrobiopterin (BH4). In Genetics, 200, 237-53. doi:10.1534/genetics.114.174110. https://pubmed.ncbi.nlm.nih.gov/25808955/
7. Sailer, Sabrina, Coassin, Stefan, Lackner, Katharina, Werner, Ernst R, Watschinger, Katrin. 2021. When the genome bluffs: a tandem duplication event during generation of a novel Agmo knockout mouse model fools routine genotyping. In Cell & bioscience, 11, 54. doi:10.1186/s13578-021-00566-9. https://pubmed.ncbi.nlm.nih.gov/33726865/
8. Ghanavi, Jalaledin, Farnia, Poopak, Farnia, Parissa, Velayati, Ali Akbar. . Human genetic background in susceptibility to tuberculosis. In International journal of mycobacteriology, 9, 239-247. doi:10.4103/ijmy.ijmy_118_20. https://pubmed.ncbi.nlm.nih.gov/32862155/
9. Marquet, Sandrine, Bucheton, Bruno, Reymond, Camille, Hammad, Awad, Dessein, Alain J. . Exome Sequencing Identifies Two Variants of the Alkylglycerol Monooxygenase Gene as a Cause of Relapses in Visceral Leishmaniasis in Children, in Sudan. In The Journal of infectious diseases, 216, 22-28. doi:10.1093/infdis/jix277. https://pubmed.ncbi.nlm.nih.gov/28586473/
10. Sell-Kubiak, Ewa, Dobrzanski, Jan, Derks, Martijn F L, Lopes, Marcos S, Szwaczkowski, Tomasz. 2022. Meta-Analysis of SNPs Determining Litter Traits in Pigs. In Genes, 13, . doi:10.3390/genes13101730. https://pubmed.ncbi.nlm.nih.gov/36292615/