C57BL/6JCya-Kcnj11em1flox/Cya
Common Name:
Kcnj11-flox
Product ID:
S-CKO-03223
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Kcnj11-flox
Strain ID
CKOCMP-16514-Kcnj11-B6J-VA
Gene Name
Product ID
S-CKO-03223
Gene Alias
Kir6.2; mBIR
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
7
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Kcnj11em1flox/Cya mice (Catalog S-CKO-03223) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000211674
NCBI RefSeq
NM_010602
Target Region
Exon 1
Size of Effective Region
~3.2 kb
Detailed Document
Overview of Gene Research
Kcnj11, which encodes the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium (KATP) channel, is a key gene in the insulin secretion pathway in pancreatic beta cells [2,5]. The KATP channel is a heteromeric protein involved in glucose-stimulated insulin secretion, making Kcnj11 crucial for maintaining normal blood glucose levels [2].
Mutations in Kcnj11 are associated with a wide range of glucose metabolism disorders. Inactivating mutations lead to oversecretion of insulin, causing congenital hyperinsulinism, while activating mutations result in diabetes, including neonatal diabetes, maturity-onset diabetes of the young (KCNJ11-MODY), and type 2 diabetes [1,3,5]. For example, in Chinese early-onset diabetes patients, certain rare variants of Kcnj11 were found, though their pathogenicity needed further verification [3]. Also, studies on Kcnj11 polymorphisms showed associations with gestational diabetes mellitus in some ethnic groups, like the rs5219 polymorphism in Caucasian and Asian populations [4].
In conclusion, Kcnj11 plays a vital role in insulin secretion and glucose metabolism. Its mutations are strongly linked to various diabetes-related disorders, and understanding its function through genetic models can provide insights into the pathogenesis of these diseases, potentially guiding more targeted treatment strategies.
References:
1. De Franco, Elisa, Saint-Martin, Cécile, Brusgaard, Klaus, Bellanné-Chantelot, Christine, Flanagan, Sarah E. 2020. Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. In Human mutation, 41, 884-905. doi:10.1002/humu.23995. https://pubmed.ncbi.nlm.nih.gov/32027066/
2. Haghvirdizadeh, Polin, Mohamed, Zahurin, Abdullah, Nor Azizan, Haerian, Monir Sadat, Haerian, Batoul Sadat. 2015. KCNJ11: Genetic Polymorphisms and Risk of Diabetes Mellitus. In Journal of diabetes research, 2015, 908152. doi:10.1155/2015/908152. https://pubmed.ncbi.nlm.nih.gov/26448950/
3. Ba, Tianhao, Ren, Qian, Gong, Siqian, Han, Xueyao, Ji, Linong. 2024. Phenotypic features, prevalence of KCNJ11-MODY in Chinese patients with early-onset diabetes and a literature review. In Clinical endocrinology, 101, 466-474. doi:10.1111/cen.15126. https://pubmed.ncbi.nlm.nih.gov/39190464/
4. Golshan-Tafti, Mohammad, Bahrami, Reza, Dastgheib, Seyed Alireza, Aghili, Kazem, Neamatzadeh, Hossein. 2024. Comprehensive data on the relationship between KCNJ11 polymorphisms and gestational diabetes mellitus predisposition: a meta-analysis. In Journal of diabetes and metabolic disorders, 23, 475-486. doi:10.1007/s40200-024-01428-0. https://pubmed.ncbi.nlm.nih.gov/38932913/
5. He, Binbin, Li, Xia, Zhou, Zhiguang. 2020. Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature. In Journal of diabetes, 13, 19-32. doi:10.1111/1753-0407.13114. https://pubmed.ncbi.nlm.nih.gov/32935446/
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