C57BL/6JCya-Galnt18em1/Cya
Common Name:
Galnt18-KO
Product ID:
S-KO-19431
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Galnt18-KO
Strain ID
KOCMP-233733-Galnt18-B6J-VC
Gene Name
Product ID
S-KO-19431
Gene Alias
2900011G21Rik; Galntl4; galNAc-T18; mpp-GalNAc-T18(O18)
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
7
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Galnt18em1/Cya mice (Catalog S-KO-19431) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000049430
NCBI RefSeq
NM_173739
Target Region
Exon 4
Size of Effective Region
~1.5 kb
Detailed Document
Overview of Gene Research
GALNT18, also known as polypeptide N-acetylgalactosaminyltransferase 18, is involved in mucin-type O-glycosylation. Unlike most enzymes in this family located in the Golgi apparatus, it is predominantly on the endoplasmic reticulum (ER) and has no in vitro catalytic activity for this glycosylation. It plays a crucial role in maintaining ER homeostasis and protein O-glycosylation, and is thus important for various biological processes [4].
In rheumatoid arthritis patients, the GALNT18-CC genotype is associated with better EULAR response, remission, low disease activity (LDA) and DAS28 improvement when treated with tocilizumab [1]. In Chinese children, the rs274503 polymorphism in ZBED5/GALNT18 is associated with the risk of idiopathic clubfoot, with the G allele increasing the bilateral case rate [2]. Also, in lupus patients, demethylation of a CpG site within GALNT18 is related to the development of active lupus nephritis [3].
In conclusion, GALNT18 is essential for ER homeostasis and O-glycosylation. Studies in human disease conditions such as rheumatoid arthritis, idiopathic clubfoot, and lupus nephritis have revealed its associations with disease susceptibility and treatment response, highlighting its significance in understanding these disease mechanisms and potentially guiding personalized treatment strategies.
References：
1. Maldonado-Montoro, Mar, Cañadas-Garre, Marisa, González-Utrilla, Alfonso, Plaza-Plaza, José Cristian, Calleja-Hernández, Miguel Ÿngel. 2016. Genetic and clinical biomarkers of tocilizumab response in patients with rheumatoid arthritis. In Pharmacological research, 111, 264-271. doi:10.1016/j.phrs.2016.06.016. https://pubmed.ncbi.nlm.nih.gov/27339827/
2. Li, Jingchun, Kang, Xiaopeng, Zhu, Guanghui, Xu, Hongwen, Xia, Huimin. 2024. Association of Polymorphism in Locus of rs274503 (ZBED5/GALNT18) with the Risk of Idiopathic Clubfoot in Chinese Children: An 11-Center Case-Control Study. In Genetic testing and molecular biomarkers, 28, 461-466. doi:10.1089/gtmb.2023.0477. https://pubmed.ncbi.nlm.nih.gov/39652342/
3. Coit, Patrick, Ortiz-Fernandez, Lourdes, Lewis, Emily E, Maksimowicz-McKinnon, Kathleen, Sawalha, Amr H. 2020. A longitudinal and transancestral analysis of DNA methylation patterns and disease activity in lupus patients. In JCI insight, 5, . doi:10.1172/jci.insight.143654. https://pubmed.ncbi.nlm.nih.gov/33108347/
4. Shan, Aidong, Lu, Jishun, Xu, Zhijue, Narimatsu, Hisashi, Zhang, Yan. 2019. Polypeptide N-acetylgalactosaminyltransferase 18 non-catalytically regulates the ER homeostasis and O-glycosylation. In Biochimica et biophysica acta. General subjects, 1863, 870-882. doi:10.1016/j.bbagen.2019.01.009. https://pubmed.ncbi.nlm.nih.gov/30797803/
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