C57BL/6JCya-Pold1em1flox/Cya
Common Name:
Pold1-flox
Product ID:
S-CKO-04373
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Pold1-flox
Strain ID
CKOCMP-18971-Pold1-B6J-VA
Gene Name
Product ID
S-CKO-04373
Gene Alias
125kDa
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
7
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Pold1em1flox/Cya mice (Catalog S-CKO-04373) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000049343
NCBI RefSeq
NM_011131
Target Region
Exon 4~10
Size of Effective Region
~2.2 kb
Detailed Document
Overview of Gene Research
POLD1, encoding the catalytic and proofreading subunit of DNA polymerase δ, is crucial for DNA replication and proofreading [1,2,4,5]. It is involved in maintaining genomic stability, a key process in normal cellular function and development. Genetic models, such as KO or CKO mouse models, could potentially be used to further explore its functions in vivo.
Germline pathogenic variants in the exonuclease domain of POLD1 predispose to adenomatous polyps, colorectal cancer, endometrial tumors, and other malignancies, with an increased mutation rate and specific mutational signatures [2]. POLD1 mutations also define a rare subtype of ultramutated metastatic colorectal cancer, and patients with such mutations show more favorable outcomes to immune checkpoint inhibitor treatment compared to mismatch repair-deficient/microsatellite instability-high metastatic colorectal cancer [6]. Additionally, high POLD1 expression promotes the proliferation and metastasis of bladder cancer via stabilizing MYC, forming a positive feedback loop with MYC [3].
In conclusion, POLD1 is essential for DNA replication and proofreading, playing a significant role in maintaining genomic stability. Its mutations are associated with an increased risk of various cancers, and understanding POLD1 through model-based research, such as potential KO/CKO mouse models, may provide insights into cancer development and treatment, especially in relation to immunotherapy and the role in specific cancer types like colorectal and bladder cancer [2,3,6].
References:
1. Ma, Xiaoting, Dong, Lin, Liu, Xiu, Ou, Kai, Yang, Lin. 2022. POLE/POLD1 mutation and tumor immunotherapy. In Journal of experimental & clinical cancer research : CR, 41, 216. doi:10.1186/s13046-022-02422-1. https://pubmed.ncbi.nlm.nih.gov/35780178/
2. Mur, Pilar, García-Mulero, Sandra, Del Valle, Jesús, Lázaro, Conxi, Valle, Laura. 2020. Role of POLE and POLD1 in familial cancer. In Genetics in medicine : official journal of the American College of Medical Genetics, 22, 2089-2100. doi:10.1038/s41436-020-0922-2. https://pubmed.ncbi.nlm.nih.gov/32792570/
3. Wang, Yejinpeng, Ju, Lingao, Wang, Gang, Xiao, Yu, Wang, Xinghuan. 2023. DNA polymerase POLD1 promotes proliferation and metastasis of bladder cancer by stabilizing MYC. In Nature communications, 14, 2421. doi:10.1038/s41467-023-38160-x. https://pubmed.ncbi.nlm.nih.gov/37105989/
4. Gola, Michał, Stefaniak, Przemysław, Godlewski, Janusz, Jereczek-Fossa, Barbara Alicja, Starzyńska, Anna. 2023. Prospects of POLD1 in Human Cancers: A Review. In Cancers, 15, . doi:10.3390/cancers15061905. https://pubmed.ncbi.nlm.nih.gov/36980791/
5. Magrin, Luigi, Fanale, Daniele, Brando, Chiara, Russo, Antonio, Bazan, Viviana. 2021. POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes. In Oncogene, 40, 5893-5901. doi:10.1038/s41388-021-01984-2. https://pubmed.ncbi.nlm.nih.gov/34363023/
6. Ambrosini, M, Rousseau, B, Manca, P, Lonardi, S, Pietrantonio, F. 2024. Immune checkpoint inhibitors for POLE or POLD1 proofreading-deficient metastatic colorectal cancer. In Annals of oncology : official journal of the European Society for Medical Oncology, 35, 643-655. doi:10.1016/j.annonc.2024.03.009. https://pubmed.ncbi.nlm.nih.gov/38777726/
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