C57BL/6JCya-Ext1em1/Cya
Common Name:
Ext1-KO
Product ID:
S-KO-17961
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Ext1-KO
Strain ID
KOCMP-14042-Ext1-B6J-VA
Gene Name
Product ID
S-KO-17961
Gene Alias
-
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
15
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ext1em1/Cya mice (Catalog S-KO-17961) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000077273
NCBI RefSeq
NM_010162
Target Region
Exon 2~3
Size of Effective Region
~2.6 kb
Detailed Document
Overview of Gene Research
Ext1, also known as Exostosin 1, is an endoplasmic reticulum-resident transmembrane glycosyltransferase. It plays a crucial role in endoplasmic reticulum (ER) homeostasis. Ext1 is involved in the biosynthesis and distribution of heparan sulfate, which is associated with multiple cellular functions and signaling pathways [2,4]. Loss-of-function mutations in Ext1 are linked to hereditary multiple exostosis (HME), highlighting its importance in normal biological processes [2,6].
In the context of diseases, in non-alcoholic fatty liver disease (NAFLD), high-fat-diet induced mice show decreased hepatic Ext1 expression. Ext1 deficiency promotes free fatty acid (FFA)-induced insulin resistance in hepatocytes and exacerbates ER stress-triggered autophagy disruption, accelerating NAFLD progression [2].
In membranous lupus nephritis, EXT1-positive patients had better kidney function at diagnosis compared to EXT1-negative patients, and EXT1 status may change during the disease course [1]. Also, a subset of membranous nephropathy is associated with accumulation of EXT1 in the glomerular basement membrane, and autoimmune disease is common in this group [3].
In acute lymphoblastic leukemia (ALL), EXT1 expression is downregulated, and low bone marrow EXT1 levels independently predict poor prognoses. EXT1 promotes cell apoptosis via deactivating the ERK1/2 pathway, and miR-665 can suppress EXT1 to promote cell growth and inhibit apoptosis [4].
In non-small cell lung carcinoma, EXT1 methylation promotes proliferation and migration via the WNT signalling pathway and predicts a poor prognosis [5].
In conclusion, Ext1 is essential for maintaining ER homeostasis and is involved in the biosynthesis of heparan sulfate. Studies using various models, though not always knockout mouse models, have revealed its significance in diseases such as NAFLD, membranous nephropathy-related conditions, ALL, and non-small cell lung carcinoma. These findings help in understanding the biological functions of Ext1 and provide potential insights for disease treatment and prevention.
References：
1. Miller, Paul P, Caza, Tiffany, Larsen, Christopher P, Charu, Vivek. . EXT1 and NCAM1-associated membranous lupus nephritis in a cohort of patients undergoing repeat kidney biopsies. In Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 38, 396-404. doi:10.1093/ndt/gfac058. https://pubmed.ncbi.nlm.nih.gov/35278072/
2. Wang, Mengxiao, Li, Bingbing, Qin, Fujian, Ye, Junmei, Jin, Liang. 2021. Obesity induced Ext1 reduction mediates the occurrence of NAFLD. In Biochemical and biophysical research communications, 589, 123-130. doi:10.1016/j.bbrc.2021.12.017. https://pubmed.ncbi.nlm.nih.gov/34906902/
3. Sethi, Sanjeev, Madden, Benjamin J, Debiec, Hanna, Fervenza, Fernando C, Ronco, Pierre. 2019. Exostosin 1/Exostosin 2-Associated Membranous Nephropathy. In Journal of the American Society of Nephrology : JASN, 30, 1123-1136. doi:10.1681/ASN.2018080852. https://pubmed.ncbi.nlm.nih.gov/31061139/
4. Liu, Na-Wei, Huang, Xin, Liu, Shuang, Lu, Yue. 2019. EXT1, Regulated by MiR-665, Promotes Cell Apoptosis via ERK1/2 Signaling Pathway in Acute Lymphoblastic Leukemia. In Medical science monitor : international medical journal of experimental and clinical research, 25, 6491-6503. doi:10.12659/MSM.918295. https://pubmed.ncbi.nlm.nih.gov/31465316/
5. Kong, Wencui, Chen, Ying, Zhao, Zhongquan, Lai, Guoxiang, Yu, Zongyang. 2021. EXT1 methylation promotes proliferation and migration and predicts the clinical outcome of non-small cell lung carcinoma via WNT signalling pathway. In Journal of cellular and molecular medicine, 25, 2609-2620. doi:10.1111/jcmm.16277. https://pubmed.ncbi.nlm.nih.gov/33565239/
6. Wuyts, W, Van Hul, W. . Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. In Human mutation, 15, 220-7. doi:. https://pubmed.ncbi.nlm.nih.gov/10679937/
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