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C57BL/6JCya-Galnt18em1flox/Cya
Common Name:
Galnt18-flox
Product ID:
S-CKO-07666
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Galnt18-flox
Strain ID
CKOCMP-233733-Galnt18-B6J-VA
Gene Name
Galnt18
Product ID
S-CKO-07666
Gene Alias
2900011G21Rik; Galntl4; galNAc-T18; mpp-GalNAc-T18(O18)
Background
C57BL/6JCya
NCBI ID
233733
Modification
Conditional knockout
Chromosome
7
Phenotype
MGI:2446239
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Galnt18em1flox/Cya mice (Catalog S-CKO-07666) 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
Click here to download >>
Overview of Gene Research
Galnt18, a gene of significance, is involved in the mucin-type glycosylation process within the Golgi apparatus [3]. When there is mucin-type Golgi stress, the expression of Galnt18 is increased as part of a novel response pathway that enhances the expression of glycosylation enzymes for mucins, and it also seems to be related to the crosstalk between the mucin pathway and the TFE3 pathway [3].

In human studies, the GALNT18-CC genotype was associated with a better EULAR response, remission, and DAS28 improvement in rheumatoid arthritis patients treated with tocilizumab [1]. Also, the C-allele of GALNT18 was an independent factor capable of predicting higher LDA rates at 6 and 18 months in these patients [1]. Additionally, in Chinese children, the rs274503 polymorphism in ZBED5/GALNT18 was associated with the risk of idiopathic clubfoot, with the G allele increasing the risk, especially in bilateral cases [2]. Moreover, in lupus patients, demethylation of a CpG site within GALNT18 was associated with the development of active lupus nephritis [4]. In Chinese rheumatoid arthritis patients, GALNT18 rs4910008 was significantly associated with CDAI LDA [5]. In dairy cattle, GALNT18 was among the genes identified within differential CNVRs potentially associated with milk protein and fat traits [6].

In conclusion, Galnt18 is crucial in mucin-type glycosylation and the Golgi stress response. Its genetic variations are associated with various diseases such as rheumatoid arthritis, idiopathic clubfoot, and lupus nephritis. These findings from human and animal studies highlight its importance in understanding disease mechanisms and potentially developing targeted therapies.

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. Jamaludin, Mohamad Ikhwan, Wakabayashi, Sadao, Taniguchi, Mai, Sakamoto, Miyu, Yoshida, Hiderou. 2019. MGSE Regulates Crosstalk from the Mucin Pathway to the TFE3 Pathway of the Golgi Stress Response. In Cell structure and function, 44, 137-151. doi:10.1247/csf.19009. https://pubmed.ncbi.nlm.nih.gov/31534067/
4. 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/
5. Qin, Wen, Wang, Meng-Qiao, Wang, Ting-Hui, Wu, Xiu-Di, Cen, Han. 2024. Associations of genetic polymorphisms with clinical response to tocilizumab in Chinese rheumatoid arthritis patients. In International immunopharmacology, 146, 113769. doi:10.1016/j.intimp.2024.113769. https://pubmed.ncbi.nlm.nih.gov/39718059/
6. Gao, Yahui, Jiang, Jianping, Yang, Shaohua, Zhang, Qin, Sun, Dongxiao. 2017. CNV discovery for milk composition traits in dairy cattle using whole genome resequencing. In BMC genomics, 18, 265. doi:10.1186/s12864-017-3636-3. https://pubmed.ncbi.nlm.nih.gov/28356085/
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
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