Clptm1-KO 基因敲除小鼠

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产品名称

Clptm1-KO 基因敲除小鼠

产品编号

S-KO-20006

品系全称

C57BL/6JCya-Clptm1em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-56457-Clptm1-B6J-VB

品系状态

使用本品系发表的文献需注明: Clptm1-KO 基因敲除小鼠 mice (Strain S-KO-20006) 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
cleft lip and palate associated transmembrane protein 1
基因别称
HS9,N14
染色体号
Chr 7 (Mouse)
转录本 ID
NCBI: NM_019649 | Ensembl: ENSMUST00000055242
修饰方式
全身性基因敲除
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:1927155Mice homozygous for a knock-out allele show abnormal morula morphology and complete embryonic lethality before implantation. In vitro, embryos fail to hatch from the zona pellucida and die after 3 days in culture, never forming outgrowths.
Clptm1,也称为cleft palate transmembrane protein 1,是一个编码跨膜蛋白的基因。Clptm1蛋白在多种组织中表达,包括口腔、皮肤和肾脏等。研究发现,Clptm1蛋白与多种生物学过程相关,包括细胞增殖、迁移、凋亡和炎症反应等。

Clptm1基因突变与多种疾病相关。例如,一项研究发现,两个新的错义突变Clptm1-p.R454H和Clptm1-p.R568Q与癫痫发作相关[1]。这些突变导致GABAAR电流响应幅度降低,从而促进兴奋和超同步活动。此外,Clptm1基因突变还与唇裂和腭裂相关[2]。研究发现,一个染色体易位导致CLPTM1基因断裂,导致唇裂和腭裂的发生。此外,Clptm1蛋白在口腔鳞状细胞癌(OSCC)中也发挥重要作用。研究发现,Clptm1和CRR9蛋白在OSCC组织中过表达,CRR9表达与肿瘤侵袭深度、患者预后和吸烟习惯相关[3]。

Clptm1蛋白还与GPER1受体相互作用。研究发现,CLPTM1与GPER1相互作用,并且PRKCSH和GANAB分别与CLPTM1和GPER1相关联[4]。此外,研究发现,Clptm1蛋白的失衡导致GPER1与细胞核的关联增加,这与PRKCSH的过表达一致。此外,STIM1与GPER1相互作用,并且当STIM1过表达和Ca2+储存耗尽时,GPER1与细胞核的关联增加。

Clptm1基因突变还与认知功能相关。研究发现,Clptm1基因与记忆表现和衰退相关,并且这种相关性在不同种族之间存在差异[5]。此外,研究发现,Clptm1基因多态性与肝细胞癌的预后相关[6]。研究发现,rs401681位点的C等位基因与肝细胞癌的T和TNM分期增加相关,并且与肝细胞癌的较差预后相关。此外,研究发现,较长的端粒长度与黑色素瘤风险增加相关,并且TERT-CLPTM1位点的rs401681变异与黑色素瘤风险相关[7]。此外,研究发现,端粒长度与年龄相关性黄斑变性的发展相关,并且TRF1基因的rs10107605变异与端粒长度相关[8]。

Clptm1基因突变还与乳腺癌化疗的响应相关。研究发现,乳腺癌患者中,PRSS11、MTSS1和CLPTM1基因表达与对多柔比星化疗的响应相关[9]。此外,研究发现,PRSS11、MTSS1和CLPTM1基因表达可以区分多柔比星化疗的响应者和非响应者[10]。

综上所述,Clptm1是一个重要的基因,参与多种生物学过程和疾病的发生。Clptm1基因突变与癫痫、唇裂、腭裂、口腔鳞状细胞癌、认知功能、肝细胞癌、黑色素瘤和年龄相关性黄斑变性相关。此外,Clptm1基因突变还与乳腺癌化疗的响应相关。Clptm1的研究有助于深入理解其在疾病发生中的作用,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Liu, Nana, Li, Jinliang, Gao, Kai, Traynelis, Stephen F, Jiang, Yuwu. 2023. De novo CLPTM1 variants with reduced GABAA R current response in patients with epilepsy. In Epilepsia, 64, 2968-2981. doi:10.1111/epi.17746. https://pubmed.ncbi.nlm.nih.gov/37577761/
2. Yoshiura, K, Machida, J, Daack-Hirsch, S, Hecht, J T, Murray, J C. . Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate. In Genomics, 54, 231-40. doi:. https://pubmed.ncbi.nlm.nih.gov/9828125/
3. Inoue, Keisuke, Hatano, Kiichi, Hanamatsu, Yuki, Shibata, Toshiyuki, Takeuchi, Tamotsu. 2019. Pathobiological role of cleft palate transmembrane protein 1 family proteins in oral squamous cell carcinoma. In Journal of cancer research and clinical oncology, 145, 851-859. doi:10.1007/s00432-019-02843-0. https://pubmed.ncbi.nlm.nih.gov/30635792/
4. Ahmadian Elmi, Maryam, Motamed, Nasrin, Picard, Didier. 2023. Proteomic Analyses of the G Protein-Coupled Estrogen Receptor GPER1 Reveal Constitutive Links to Endoplasmic Reticulum, Glycosylation, Trafficking, and Calcium Signaling. In Cells, 12, . doi:10.3390/cells12212571. https://pubmed.ncbi.nlm.nih.gov/37947649/
5. Smith, Jennifer A, Kho, Minjung, Zhao, Wei, Mitchell, Colter, Faul, Jessica D. 2018. Genetic effects and gene-by-education interactions on episodic memory performance and decline in an aging population. In Social science & medicine (1982), 271, 112039. doi:10.1016/j.socscimed.2018.11.019. https://pubmed.ncbi.nlm.nih.gov/30449520/
6. Lee, Hye Won, Park, Won-Jin, Heo, Yu-Ran, Park, Soo Young, Lee, Jae-Ho. 2017. TERT-CLPTM1 locus polymorphism (rs401681) is associated with the prognosis of hepatocellular carcinoma. In OncoTargets and therapy, 10, 4853-4858. doi:10.2147/OTT.S138956. https://pubmed.ncbi.nlm.nih.gov/29042796/
7. Llorca-Cardeñosa, Marta J, Peña-Chilet, Maria, Mayor, Matias, Ibarrola-Villava, Maider, Ribas, Gloria. 2014. Long telomere length and a TERT-CLPTM1 locus polymorphism association with melanoma risk. In European journal of cancer (Oxford, England : 1990), 50, 3168-77. doi:10.1016/j.ejca.2014.09.017. https://pubmed.ncbi.nlm.nih.gov/25457634/
8. Banevicius, Mantas, Gedvilaite, Greta, Vilkeviciute, Alvita, Zemaitiene, Reda, Liutkeviciene, Rasa. 2021. Association of relative leukocyte telomere length and genetic variants in telomere-related genes (TERT, TERT-CLPTM1, TRF1, TNKS2, TRF2) with atrophic age-related macular degeneration. In Ophthalmic genetics, 42, 189-194. doi:10.1080/13816810.2021.1881976. https://pubmed.ncbi.nlm.nih.gov/33565341/
9. Sobral, Renata A, Honda, Suzana T, Katayama, Maria Lucia H, Patrão, Diogo F C, Folgueira, Maria Aparecida A K. 2008. Tumor slices as a model to evaluate doxorubicin in vitro treatment and expression of trios of genes PRSS11, MTSS1, CLPTM1 and PRSS11, MTSS1, SMYD2 in canine mammary gland cancer. In Acta veterinaria Scandinavica, 50, 27. doi:10.1186/1751-0147-50-27. https://pubmed.ncbi.nlm.nih.gov/18601734/
10. Folgueira, Maria Aparecida Azevedo Koike, Carraro, Dirce Maria, Brentani, Helena, Góes, João Carlos Guedes Sampaio, Brentani, Maria Mitzi. . Gene expression profile associated with response to doxorubicin-based therapy in breast cancer. In Clinical cancer research : an official journal of the American Association for Cancer Research, 11, 7434-43. doi:. https://pubmed.ncbi.nlm.nih.gov/16243817/