C57BL/6JCya-Cdh1em1flox/Cya
Common Name:
Cdh1-flox
Product ID:
S-CKO-01659
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Cdh1-flox
Strain ID
CKOCMP-12550-Cdh1-B6J-VA
Gene Name
Product ID
S-CKO-01659
Gene Alias
ARC-1; E-cad; Ecad; L-CAM; UVO; Um
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
8
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Cdh1em1flox/Cya mice (Catalog S-CKO-01659) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000000312
NCBI RefSeq
NM_009864
Target Region
Exon 3
Size of Effective Region
~1.2 kb
Detailed Document
Overview of Gene Research
Cdh1, which encodes E-cadherin, is a crucial gene as E-cadherin is a key protein in adherens junctions. It is involved in major cellular processes such as embryogenesis and maintenance of tissue architecture, and is recognized as a tumour suppressor gene [6].
Pathogenic CDH1 germline mutations are associated with lobular breast cancer in the hereditary lobular breast cancer (HLBC) syndrome, and also with the hereditary diffuse gastric cancer (HDGC) syndrome. A higher frequency of CDH1 mutations was identified in the HLBC syndrome with an early age at LBC diagnosis, and inactivating CDH1 mechanisms (second hit) were found in some tumor samples of germline CDH1 variant carriers [1,2]. In families with the HDGC syndrome, CDH1 splicing and missense germline mutations occur with higher frequency in healthy subjects than in patients with gastric cancer, suggesting not all pathogenic CDH1 germline mutations confer the same cancer-developing risk [3]. Also, young women carrying germline CDH1 variants have a relatively high frequency of diffuse gastric cancer in the HDGC syndrome [4]. High CDH1 methylation is significantly associated with an increased risk of esophageal cancer, and it can potentially serve as a diagnostic marker [5]. Germline CDH1 defects are related to the development of multiple cancers, including gastric, breast, prostate, and colorectal cancers [7]. In triple-negative breast cancer (TNBC), high levels of Cdh1 expression are correlated with poor prognoses, and interfering with Cdh1 function can potentiate the cytotoxic effects of PARP inhibitors [8].
In conclusion, Cdh1 is essential for maintaining normal cellular functions and tissue architecture. Studies on CDH1 germline mutations have revealed its significant role in the development of various cancers, including lobular breast cancer, diffuse gastric cancer, and esophageal cancer, as well as its potential as a target for TNBC treatment. Understanding Cdh1 through genetic models helps in uncovering disease mechanisms and developing preventive and treatment strategies for related cancers.
References：
1. Girardi, Antonia, Magnoni, Francesca, Vicini, Elisa, Veronesi, Paolo, Corso, Giovanni. . CDH1 germline mutations in families with hereditary lobular breast cancer. In European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP), 31, 274-278. doi:10.1097/CEJ.0000000000000688. https://pubmed.ncbi.nlm.nih.gov/33990097/
2. Corso, Giovanni, Marino, Elena, Zanzottera, Cristina, Bonanni, Bernardo, Veronesi, Paolo. 2024. CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype. In JAMA network open, 7, e247862. doi:10.1001/jamanetworkopen.2024.7862. https://pubmed.ncbi.nlm.nih.gov/38652475/
3. Corso, Giovanni, Magnoni, Francesca, Massari, Giulia, Galimberti, Viviana, Bagnardi, Vincenzo. 2021. CDH1 germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome. In Journal of medical genetics, 59, 313-317. doi:10.1136/jmedgenet-2021-108226. https://pubmed.ncbi.nlm.nih.gov/34952833/
4. Corso, Giovanni, Comelli, Giovanni, Veronesi, Paolo, Bagnardi, Vincenzo, Magnoni, Francesca. 2023. Germline CDH1 variants in hereditary diffuse gastric cancer syndrome with focus on younger women. In Journal of cancer research and clinical oncology, 149, 16147-16155. doi:10.1007/s00432-023-05318-5. https://pubmed.ncbi.nlm.nih.gov/37639007/
5. Fan, Zhiyuan, Chen, Ru, Li, Minjuan, Li, Xinqing, Wei, Wenqiang. 2022. Association between CDH1 methylation and esophageal cancer risk: a meta-analysis and bioinformatics study. In Expert review of molecular diagnostics, 22, 895-903. doi:10.1080/14737159.2022.2132853. https://pubmed.ncbi.nlm.nih.gov/36254608/
6. Figueiredo, Joana, Melo, Soraia, Carneiro, Patrícia, Paredes, Joana, Seruca, Raquel. 2019. Clinical spectrum and pleiotropic nature of CDH1 germline mutations. In Journal of medical genetics, 56, 199-208. doi:10.1136/jmedgenet-2018-105807. https://pubmed.ncbi.nlm.nih.gov/30661051/
7. Corso, Giovanni. 2022. Pleiotropic cancer manifestations of germline CDH1 mutations: Risks and management. In Journal of surgical oncology, 125, 1326-1331. doi:10.1002/jso.26847. https://pubmed.ncbi.nlm.nih.gov/35277969/
8. Li, Junjun, Lan, Mengjiao, Peng, Jin, Zhu, Qing, Wu, Wei. 2022. Cdh1 Deficiency Sensitizes TNBC Cells to PARP Inhibitors. In Genes, 13, . doi:10.3390/genes13050803. https://pubmed.ncbi.nlm.nih.gov/35627188/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen