C57BL/6JCya-Gxylt1em1/Cya
Common Name:
Gxylt1-KO
Product ID:
S-KO-18627
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Gxylt1-KO
Strain ID
KOCMP-223827-Gxylt1-B6J-VA
Gene Name
Product ID
S-KO-18627
Gene Alias
Glt8d3; Gm1228; Gm87
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
15
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gxylt1em1/Cya mice (Catalog S-KO-18627) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000057896
NCBI RefSeq
NM_001346785
Target Region
Exon 3~4
Size of Effective Region
~4.0 kb
Detailed Document
Overview of Gene Research
GXYLT1, a glycosyltransferase-encoding gene, is involved in the glycosylation process. Glycosylation is crucial for many biological functions, such as cell-cell recognition, signal transduction, and protein folding. NOTCH activation can promote the expression of GXYLT1 in human myeloid leukemia cells, suggesting its potential role in NOTCH-related pathways [5].
In colorectal cancer, GXYLT1 was found mutated in 40% of the samples studied. Functionally, it promoted migration, invasion in vitro and metastasis in vivo. The GXYLT1S212* mutant had an even more significant effect. Both GXYLT1 and GXYLT1S212* interacted with ERK2. GXYLT1 induced metastasis via the Notch and MAPK pathways, while the GXYLT1S212* mutant mainly activated the MAPK pathway, indicating its role as a metastasis-associated driver gene [1].
In Crohn disease, exome sequencing implicated GXYLT1 in modulating granuloma formation, suggesting its role in the disease pathogenesis [2].
In psoriasis, GXYLT1 mutations were identified, hypothesized to be selected for in squamous epithelium regardless of disease status [3].
In type 2 diabetes, a genetic variant near GXYLT1 was associated with glycemic response to sulfonylureas, and the C allele at rs1234032 was a cis-eQTL for increased GXYLT1 expression [4].
In carotid paragangliomas, GXYLT1 was potentially associated with tumor initiation and progression [6].
In Behcet's disease, GXYLT1 was among the genes in the glycosylation pathway that might be applicable diagnostic markers for subtype identification [7].
In conclusion, GXYLT1 is involved in multiple biological processes, mainly through its role in glycosylation. Its involvement in various diseases, including colorectal cancer, Crohn disease, psoriasis, type 2 diabetes, carotid paragangliomas, and Behcet's disease, is emerging from research. These findings contribute to understanding the disease mechanisms and may provide potential targets for diagnosis and treatment.
References:
1. Peng, Lin, Zhao, Min, Liu, Tianqi, Jiang, Beihai, Su, Xiangqian. 2022. A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway. In Cell death & disease, 13, 395. doi:10.1038/s41419-022-04844-3. https://pubmed.ncbi.nlm.nih.gov/35459861/
2. Harris, R Alan, Bush, Allyson H, Eagar, Todd N, Kugathasan, Subra, Kellermayer, Richard. 2023. Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for Modulating Granuloma Formation in Crohn Disease. In Journal of pediatric gastroenterology and nutrition, 77, 354-357. doi:10.1097/MPG.0000000000003873. https://pubmed.ncbi.nlm.nih.gov/37347142/
3. Olafsson, Sigurgeir, Rodriguez, Elke, Lawson, Andrew R J, Campbell, Peter J, Anderson, Carl A. 2023. Effects of psoriasis and psoralen exposure on the somatic mutation landscape of the skin. In Nature genetics, 55, 1892-1900. doi:10.1038/s41588-023-01545-1. https://pubmed.ncbi.nlm.nih.gov/37884686/
4. Dawed, Adem Y, Yee, Sook Wah, Zhou, Kaixin, Giacomini, Kathleen M, Pearson, Ewan R. 2021. Genome-Wide Meta-analysis Identifies Genetic Variants Associated With Glycemic Response to Sulfonylureas. In Diabetes care, 44, 2673-2682. doi:10.2337/dc21-1152. https://pubmed.ncbi.nlm.nih.gov/34607834/
5. Wang, Shichun, Itoh, Mai, Shiratori, Erika, Ohtaka, Mika, Tohda, Shuji. 2018. NOTCH activation promotes glycosyltransferase expression in human myeloid leukemia cells. In Hematology reports, 10, 7576. doi:10.4081/hr.2018.7576. https://pubmed.ncbi.nlm.nih.gov/30344988/
6. Snezhkina, A V, Lukyanova, E N, Fedorova, M S, Pudova, E A, Kudryavtseva, A V. . [Novel Genes Associated with the Development of Carotid Paragangliomas]. In Molekuliarnaia biologiia, 53, 613-626. doi:10.1134/S0026898419040141. https://pubmed.ncbi.nlm.nih.gov/31397435/
7. Zhan, Haoting, Cheng, Linlin, Li, Haolong, Yan, Songxin, Li, Yongzhe. 2023. Integrated analyses delineate distinctive immunological pathways and diagnostic signatures for Behcet's disease by leveraging gene microarray data. In Immunologic research, 71, 860-872. doi:10.1007/s12026-023-09398-w. https://pubmed.ncbi.nlm.nih.gov/37341899/
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