Cpa1-KO 基因敲除小鼠

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产品名称

Cpa1-KO 基因敲除小鼠

产品编号

S-KO-18655

品系全称

C57BL/6JCya-Cpa1em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-109697-Cpa1-B6J-VB

品系状态

使用本品系发表的文献需注明: Cpa1-KO 基因敲除小鼠 mice (Strain S-KO-18655) 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
carboxypeptidase A1, pancreatic
基因别称
0910001L12Rik,Cpa
染色体号
Chr 6 (Mouse)
转录本 ID
NCBI: NM_025350 | Ensembl: ENSMUST00000031806
修饰方式
全身性基因敲除
靶向范围
Exon 2~4
敲除长度
~1.7 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:88478Mice homozygous for a null allele exhibit a slight decreased in circulating amylase level. Mice homozygous for an amino acid substitution exhibit progressive, chronic pancreatitis.
Cpa1基因编码的是羧肽酶A1(Carboxypeptidase A1),羧肽酶A1是一种胰腺分泌的消化酶,主要作用是水解蛋白质和多肽的羧基端氨基酸,将其转化为游离氨基酸。羧肽酶A1在消化过程中发挥着重要作用,有助于蛋白质的完全消化和吸收。此外,羧肽酶A1还参与其他生物学过程,如细胞凋亡、细胞增殖和细胞迁移等[4][5][7][8][9]。

Cpa1基因的突变与多种胰腺疾病相关,包括慢性胰腺炎和胰腺癌。慢性胰腺炎是一种以胰腺组织进行性炎症和纤维化为特征的疾病,可导致胰腺功能丧失和严重并发症。研究表明,Cpa1基因的突变会导致羧肽酶A1的活性降低或分泌减少,从而影响胰腺的功能和消化过程[1][2][6]。此外,Cpa1基因的突变还与胰腺癌的发生发展相关。胰腺癌是一种高度恶性的肿瘤,预后较差。研究发现,Cpa1基因的突变会影响胰腺细胞的增殖和凋亡,从而促进肿瘤的发生和进展[3]。

综上所述,Cpa1基因编码的羧肽酶A1在消化和胰腺疾病中发挥着重要作用。Cpa1基因的突变与慢性胰腺炎和胰腺癌的发生发展相关,深入研究Cpa1基因的功能和突变机制有助于理解胰腺疾病的发病机制,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Litvinova, M M, Khafizov, K F, Speranskaya, A S, Karnaushkina, M A, Bordin, D S. 2023. Spectrum of PRSS1, SPINK1, CTRC, CFTR, and CPA1 Gene Variants in Chronic Pancreatitis Patients in Russia. In Sovremennye tekhnologii v meditsine, 15, 60-70. doi:10.17691/stm2023.15.2.06. https://pubmed.ncbi.nlm.nih.gov/37389024/
2. Głuszek, Stanisław, Adamus-Białek, Wioletta, Chrapek, Magdalena, Matykiewicz, Jarosław, Wawszczak-Kasza, Monika. 2024. Genetic Variability in the CPA1 Gene and Its Impact on Acute Pancreatitis Risk: New Insights from a Large-Scale Study. In International journal of molecular sciences, 25, . doi:10.3390/ijms252011301. https://pubmed.ncbi.nlm.nih.gov/39457082/
3. Yin, Lingdi, Wei, Jishu, Lu, Zipeng, Yu, Jun, Miao, Yi. 2022. Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China. In JAMA network open, 5, e2148721. doi:10.1001/jamanetworkopen.2021.48721. https://pubmed.ncbi.nlm.nih.gov/35171259/
4. Delbecq, P, Werner, M, Feller, A, Messenguy, F, Piérard, A. . A segment of mRNA encoding the leader peptide of the CPA1 gene confers repression by arginine on a heterologous yeast gene transcript. In Molecular and cellular biology, 14, 2378-90. doi:. https://pubmed.ncbi.nlm.nih.gov/8139542/
5. Wang, Ya-Hui, Masson, Emmanuelle, Liao, Zhuan, Zou, Wen-Bin, Chen, Jian-Min. 2024. Strengths and limitations of AlphaMissense in CPA1 missense variant classification. In Gut, 73, e42. doi:10.1136/gutjnl-2024-332120. https://pubmed.ncbi.nlm.nih.gov/38471746/
6. Chen, Jian-Min, Herzig, Anthony F, Génin, Emmanuelle, Cooper, David N, Férec, Claude. 2021. Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review. In Genes, 12, . doi:10.3390/genes12040471. https://pubmed.ncbi.nlm.nih.gov/33806082/
7. Sándor, Máté, Thiel, Franziska G, Schmid, Margit, Hoerning, André, Sahin-Tóth, Miklós. 2022. Novel p.G250A Mutation Associated with Chronic Pancreatitis Highlights Misfolding-Prone Region in Carboxypeptidase A1 (CPA1). In International journal of molecular sciences, 23, . doi:10.3390/ijms232415463. https://pubmed.ncbi.nlm.nih.gov/36555104/
8. Fu, Yichun, Lucas, Aimee L. . Genetic Evaluation of Pancreatitis. In Gastrointestinal endoscopy clinics of North America, 32, 27-43. doi:10.1016/j.giec.2021.08.006. https://pubmed.ncbi.nlm.nih.gov/34798985/
9. Wu, Hao, Zhou, Dai-Zhan, Berki, Dorottya, Sahin-Tóth, Miklós, Liao, Zhuan. 2017. No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort. In Human mutation, 38, 959-963. doi:10.1002/humu.23254. https://pubmed.ncbi.nlm.nih.gov/28497564/