C57BL/6JCya-Nthl1em1/Cya
Common Name:
Nthl1-KO
Product ID:
S-KO-19411
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Nthl1-KO
Strain ID
KOCMP-18207-Nthl1-B6J-VB
Gene Name
Product ID
S-KO-19411
Gene Alias
Nth1; Octs3
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
17
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Nthl1em1/Cya mice (Catalog S-KO-19411) 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 is a DNA glycosylase gene involved in the base excision repair pathway, which is crucial for maintaining genomic integrity. By removing base lesions, it helps prevent genomic mutations that could lead to various diseases [1].
Mutations in NTHL1 have been associated with several diseases, especially cancer. Biallelic mutations in NTHL1 predispose individuals to NTHL1-associated polyposis (NAP), a rare tumor syndrome, which increases the risk of colorectal cancer and other malignancies. Homozygous mutations in NTHL1 are also linked to a high risk of breast, urinary tract, and basal-cell skin cancers, suggesting it is a recessive multi-tumour susceptibility gene [1,2,3,4].
In conclusion, NTHL1 plays an essential role in genomic integrity through its function in the base excision repair pathway. Its mutations are significantly associated with an increased risk of multiple cancers, especially colorectal and breast cancers. Understanding NTHL1's function through genetic models can provide insights into the mechanisms of cancer development and potentially guide prevention and surveillance strategies for mutation carriers [1,2,3,4].
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. 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/
3. 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/
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