Capn10-flox 基因敲除小鼠

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产品名称

Capn10-flox 基因敲除小鼠

产品编号

S-CKO-08012

品系全称

C57BL/6JCya-Capn10em1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-23830-Capn10-B6J-VA

品系状态

使用本品系发表的文献需注明: Capn10-flox 基因敲除小鼠 mice (Strain S-CKO-08012) 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
calpain 10
基因别称
Capn8,mKIAA1845
染色体号
Chr 1 (Mouse)
转录本 ID
NCBI: NM_011796 | Ensembl: ENSMUST00000027488
修饰方式
条件性基因敲除
靶向范围
Exon 2~3
敲除长度
~2.1 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:1344392Mice homozygous for a knock-out allele exhibit resistance to ryanodine- and palmitate-induced pancreatic apoptosis. Mice homozygous for a different knock-out allele exhibit increased adiposity, body and organ weights, and leptin serum levels on background containing LG/J.
Calpain-10(CAPN10)基因位于人类染色体2q37.3上,是一个钙依赖性半胱氨酸蛋白酶家族成员。该基因编码的蛋白质在多种生理和病理过程中发挥作用,包括细胞凋亡、细胞信号传导和细胞周期调控。CAPN10基因的表达和活性受到多种因素的调控,包括基因多态性、表观遗传修饰和环境因素等。

CAPN10基因与多种疾病的发生和发展密切相关,包括2型糖尿病(T2DM)、妊娠糖尿病(GDM)、多囊卵巢综合征(PCOS)和帕金森病等。在T2DM中,CAPN10基因多态性与胰岛素抵抗、胰岛β细胞功能减退和糖尿病并发症的发生有关[1,2,3,4]。在GDM中,CAPN10基因多态性与GDM的发生和严重程度相关,并且可能影响GDM患者的胎盘表达[5]。在PCOS中,CAPN10基因多态性与PCOS的易感性、临床表型和预后相关[6]。此外,CAPN10基因变异还与帕金森病的风险和疾病进展相关[7]。

除了基因多态性,CAPN10基因的表观遗传修饰,如DNA甲基化,也可能影响其表达和功能。研究发现,T2DM患者的CAPN10基因启动子区域存在DNA超甲基化,这可能是T2DM的潜在预测生物标志物[8]。此外,CAPN10基因的表达和活性还受到环境因素的影响,如饮食、生活方式和肥胖等[9]。

综上所述,CAPN10基因在多种疾病的发生和发展中发挥重要作用,其表达和功能受到基因多态性、表观遗传修饰和环境因素的调控。深入研究CAPN10基因的功能和调控机制,有助于揭示相关疾病的发病机制,为疾病的诊断、预防和治疗提供新的思路和策略。

参考文献:
1. Ustianowski, Przemysław, Malinowski, Damian, Kopytko, Patrycja, Safranow, Krzysztof, Pawlik, Andrzej. 2021. ADCY5, CAPN10 and JAZF1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes. In Life (Basel, Switzerland), 11, . doi:10.3390/life11080806. https://pubmed.ncbi.nlm.nih.gov/34440550/
2. He, Jingjing, Zhang, Meng, Ren, Jianhua, Jiang, Xiaolian. 2024. Correlation between TCF7L2 and CAPN10 gene polymorphisms and gestational diabetes mellitus in different geographical regions: a meta-analysis. In BMC pregnancy and childbirth, 24, 15. doi:10.1186/s12884-023-06177-1. https://pubmed.ncbi.nlm.nih.gov/38166877/
3. Sultana, Munia, Islam, Md Mafizul, Hossain, Md Murad, Mitu, Farhana Siddiqi, Gupta, Shipan Das. 2023. Association of CAPN10 gene (rs3842570) polymorphism with the type 2 diabetes mellitus among the population of Noakhali region in Bangladesh: a case-control study. In Genomics & informatics, 21, e33. doi:10.5808/gi.23023. https://pubmed.ncbi.nlm.nih.gov/37813629/
4. Li, Yan-yan, Gong, Ge, Geng, Hong-yu, Wang, Xiang-ming, Chen, Ai-ling. 2014. CAPN10 SNP43 G>A gene polymorphism and type 2 diabetes mellitus in the Asian population: a meta-analysis of 9353 participants. In Endocrine journal, 62, 183-94. doi:10.1507/endocrj.EJ14-0297. https://pubmed.ncbi.nlm.nih.gov/25382134/
5. Makarious, Mary B, Lake, Julie, Pitz, Vanessa, Bhangale, Tushar, Blauwendraat, Cornelis. . Large-scale rare variant burden testing in Parkinson's disease. In Brain : a journal of neurology, 146, 4622-4632. doi:10.1093/brain/awad214. https://pubmed.ncbi.nlm.nih.gov/37348876/
6. Gonzalez, Alejandro, Abril, Eduardo, Roca, Alfredo, Real, Luis Miguel, Ruiz, Agustín. . Specific CAPN10 gene haplotypes influence the clinical profile of polycystic ovary patients. In The Journal of clinical endocrinology and metabolism, 88, 5529-36. doi:. https://pubmed.ncbi.nlm.nih.gov/14602801/
7. Smail, Harem Othman, Mohamad, Dlnya Asaad. 2023. Identification of DNA methylation of CAPN10 gene changes in the patients with type 2 diabetes mellitus as a predictive biomarker instead of HbA1c, random blood sugar, lipid profile, kidney function test, and some risk factors. In Endocrine regulations, 57, 221-234. doi:10.2478/enr-2023-0025. https://pubmed.ncbi.nlm.nih.gov/37823570/
8. Sáez, María E, González-Sánchez, José L, Ramírez-Lorca, Reposo, Ruiz, Agustín, Serrano-Ríos, Manuel. 2008. The CAPN10 gene is associated with insulin resistance phenotypes in the Spanish population. In PloS one, 3, e2953. doi:10.1371/journal.pone.0002953. https://pubmed.ncbi.nlm.nih.gov/18698425/
9. Song, Yiqing, Niu, Tianhua, Manson, JoAnn E, Kwiatkowski, David J, Liu, Simin. 2004. Are variants in the CAPN10 gene related to risk of type 2 diabetes? A quantitative assessment of population and family-based association studies. In American journal of human genetics, 74, 208-22. doi:. https://pubmed.ncbi.nlm.nih.gov/14730479/