C57BL/6JCya-Ext1em1flox/Cya
Common Name:
Ext1-flox
Product ID:
S-CKO-02281
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Ext1-flox
Strain ID
CKOCMP-14042-Ext1-B6J-VA
Gene Name
Product ID
S-CKO-02281
Gene Alias
-
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
15
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ext1em1flox/Cya mice (Catalog S-CKO-02281) 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 homeostasis and is involved in the biosynthesis and distribution of heparan sulfate. Mutations in Ext1 are associated with hereditary multiple exostosis (HME), indicating its importance in normal biological development and function. Genetic models such as gene knockout (KO) or conditional knockout (CKO) mouse models can be valuable tools to study its functions [2,3].
In non-alcoholic fatty liver disease (NAFLD), high-fat-diet induced mice showed decreased hepatic Ext1 expression. In vitro experiments with hepatocytes also demonstrated that Ext1 deficiency promoted free fatty acid (FFA)-induced insulin resistance and exacerbated ER stress-triggered autophagy disruption, accelerating NAFLD progression [2]. In membranous lupus nephritis, patients with EXT1-positive staining in kidney biopsies had better kidney function at diagnosis, and the EXT1 status might change during the disease course [1].
In conclusion, Ext1 is essential for maintaining endoplasmic reticulum homeostasis and is involved in multiple biological processes. Studies using KO/CKO mouse models and in vivo experiments on diseases like NAFLD and membranous lupus nephritis have revealed its significant roles in disease development and progression, providing insights into potential therapeutic targets for these diseases.
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. 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