C57BL/6JCya-Nthl1em1flox/Cya
Common Name:
Nthl1-flox
Product ID:
S-CKO-17829
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Nthl1-flox
Strain ID
CKOCMP-18207-Nthl1-B6J-VB
Gene Name
Product ID
S-CKO-17829
Gene Alias
Nth1; Octs3
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
17
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Nthl1em1flox/Cya mice (Catalog S-CKO-17829) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000047611
NCBI RefSeq
NM_008743
Target Region
Exon 3~4
Size of Effective Region
~2.0 kb
Detailed Document
Overview of Gene Research
NTHL1, a DNA glycosylase, is crucial for maintaining genomic integrity as it is involved in the base excision repair machinery. This machinery removes approximately 30,000 base lesions per cell daily, highlighting the significance of NTHL1 in DNA repair [1].
Genetic studies have revealed that NTHL1 is a recessive cancer susceptibility gene. Homozygous mutations in NTHL1, such as c.244C>T p.(Gln82Ter), are associated with a high risk of breast, colorectal, urinary tract, and basal-cell skin cancers, while heterozygous mutations confer a lower risk of breast cancer [2]. Biallelic mutations in NTHL1 are associated with NTHL1-associated polyposis (NAP), a rare tumor syndrome, which also increases the risk of adenomatous polyposis and colorectal cancer. The spectrum of benign and malignant tumors in NTHL1-associated tumour syndrome is broader compared to other related syndromes [3]. A systematic review showed a high frequency of early-onset colorectal and breast cancers in patients with NTHL1 tumor syndrome, suggesting the need for cancer screening programs for NTHL1 biallelic carriers [4].
In conclusion, NTHL1 plays a vital role in maintaining genomic integrity through its function in base excision repair. Its malfunction, especially due to biallelic or homozygous mutations, is strongly associated with an increased risk of various cancers, including colorectal and breast cancers. Understanding NTHL1's function provides insights into the mechanisms of cancer development and could potentially guide the implementation of preventive and surveillance strategies for mutation carriers.
References:
1. Das, Lipsa, Quintana, Victoria G, Sweasy, Joann B. . NTHL1 in genomic integrity, aging and cancer. In DNA repair, 93, 102920. doi:10.1016/j.dnarep.2020.102920. https://pubmed.ncbi.nlm.nih.gov/33087284/
2. Nurmi, Anna K, Pelttari, Liisa M, Kiiski, Johanna I, Blomqvist, Carl, Nevanlinna, Heli. 2023. NTHL1 is a recessive cancer susceptibility gene. In Scientific reports, 13, 21127. doi:10.1038/s41598-023-47441-w. https://pubmed.ncbi.nlm.nih.gov/38036545/
3. Weren, Robbert DA, Ligtenberg, Marjolijn Jl, Geurts van Kessel, Ad, Hoogerbrugge, Nicoline, Kuiper, Roland P. 2017. NTHL1 and MUTYH polyposis syndromes: two sides of the same coin? In The Journal of pathology, 244, 135-142. doi:10.1002/path.5002. https://pubmed.ncbi.nlm.nih.gov/29105096/
4. Beck, S H, Jelsig, A M, Yassin, H M, Wadt, K A W, Karstensen, J G. 2022. Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review. In Familial cancer, 21, 453-462. doi:10.1007/s10689-022-00291-3. https://pubmed.ncbi.nlm.nih.gov/35292903/
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