C57BL/6JCya-Gckem1/Cya
Common Name:
Gck-KO
Product ID:
S-KO-19039
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Gck-KO
Strain ID
KOCMP-103988-Gck-B6J-VB
Gene Name
Product ID
S-KO-19039
Gene Alias
GLK; Gk; Gls006; HK4; HKIV; HXKP; Hlb62; MODY2
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
11
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gckem1/Cya mice (Catalog S-KO-19039) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000102920
NCBI RefSeq
NM_010292
Target Region
Exon 9~10
Size of Effective Region
~1.5 kb
Detailed Document
Overview of Gene Research
Gck, or glucokinase, is a key regulatory enzyme in pancreatic beta-cells. It acts as a glucose sensor, playing a crucial role in insulin secretion regulation. It is also involved in glycogen synthesis in the liver and is central to glucose metabolism and maintaining glucose homeostasis [3,4].
Heterozygous inactivating mutations of the Gck gene cause GCK-MODY, a common form of Maturity Onset Diabetes of the Young (MODY), characterized by fasting hyperglycemia without worsening with aging and low risk of chronic vascular complications [1]. Homozygous inactivating GCK mutations result in permanent neonatal diabetes mellitus (PNDM) [3,6]. Additionally, heterozygous activating GCK mutations can cause hypoglycemia [3,6]. The penetrance of pathogenic GCK variants is high across different cohorts (89%-97%), and most people with GCK-MODY do not need pharmacotherapy, except pregnant women with non-GCK-mutated fetuses [1,2]. Dorzagliatin, a glucokinase activator, was effective and safe in a GCK-MODY patient [5].
In conclusion, Gck is essential for glucose metabolism, insulin secretion, and glycogen synthesis. Genetic studies on Gck-related mutations have revealed its significant role in various forms of diabetes, including GCK-MODY and PNDM, and understanding its functions can provide insights into the pathogenesis and treatment of these diseases [1,3,4,5].
References:
1. Hulín, J, Škopková, M, Valkovičová, T, Gašperíková, D, Staník, J. 2020. Clinical implications of the glucokinase impaired function - GCK MODY today. In Physiological research, 69, 995-1011. doi:. https://pubmed.ncbi.nlm.nih.gov/33129248/
2. Mirshahi, Uyenlinh L, Colclough, Kevin, Wright, Caroline F, Weedon, Michael N, Patel, Kashyap A. 2022. Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts. In American journal of human genetics, 109, 2018-2028. doi:10.1016/j.ajhg.2022.09.014. https://pubmed.ncbi.nlm.nih.gov/36257325/
3. Osbak, Kara K, Colclough, Kevin, Saint-Martin, Cecile, Ellard, Sian, Gloyn, Anna L. . Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. In Human mutation, 30, 1512-26. doi:10.1002/humu.21110. https://pubmed.ncbi.nlm.nih.gov/19790256/
4. Abu Aqel, Yasmin, Alnesf, Aldana, Aigha, Idil I, Teo, Adrian, Abdelalim, Essam M. 2024. Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis. In Cellular & molecular biology letters, 29, 120. doi:10.1186/s11658-024-00640-3. https://pubmed.ncbi.nlm.nih.gov/39245718/
5. Zhao, Yilin, Ma, Yumin, Ba, Tianhao, Ren, Qian, Ji, Linong. . Hypoglycemic Response to Dorzagliatin in a Patient With GCK-MODY. In Diabetes care, 47, 1140-1142. doi:10.2337/dc23-2417. https://pubmed.ncbi.nlm.nih.gov/38691834/
6. Gloyn, Anna L. . Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. In Human mutation, 22, 353-62. doi:. https://pubmed.ncbi.nlm.nih.gov/14517946/
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