C57BL/6JCya-Kcnq1em1flox/Cya
Common Name:
Kcnq1-flox
Product ID:
S-CKO-03242
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Kcnq1-flox
Strain ID
CKOCMP-16535-Kcnq1-B6J-VA
Gene Name
Product ID
S-CKO-03242
Gene Alias
KVLQT1; Kcna9
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-Kcnq1em1flox/Cya mice (Catalog S-CKO-03242) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000009689
NCBI RefSeq
NM_008434
Target Region
Exon 2
Size of Effective Region
~1.5 kb
Detailed Document
Overview of Gene Research
Kcnq1, also known as Kv7.1, is a voltage-dependent K+ channel. It is crucial in regulating gastric acid secretion, salt and glucose homeostasis, and heart rhythm. It functions in various pathways and its activity is tissue-specifically regulated by co-assembly with beta subunits KCNE1-5 [1].
Kcnq1 mutations are strongly associated with long QT syndrome (LQTS). Heterozygous mutations in Kcnq1 cause Romano-Ward syndrome (LQT1 only), while homozygous mutations lead to JLNS (LQT1 and deafness). The mutant Kcnq1 alpha-subunits combine with normal ones to form abnormal IKS channels, mainly acting through a dominant-negative or loss-of-function mechanism [3]. Additionally, the G allele of Kcnq1 variant rs163184 is associated with a lower glycosylated hemoglobin reduction after exenatide treatment in type 2 diabetes mellitus patients, indicating its role in glycemic response regulation [2].
In conclusion, Kcnq1 is essential for multiple physiological functions, especially in maintaining normal heart rhythm and glucose metabolism. Studies on Kcnq1 mutations in relation to LQTS and its role in glycemic response provide insights into these disease areas. Understanding Kcnq1's functions through genetic models helps in uncovering the underlying mechanisms of these diseases and may lead to the development of targeted therapies.
References:
1. Sun, Ji, MacKinnon, Roderick. 2019. Structural Basis of Human KCNQ1 Modulation and Gating. In Cell, 180, 340-347.e9. doi:10.1016/j.cell.2019.12.003. https://pubmed.ncbi.nlm.nih.gov/31883792/
2. Geng, Zhaoxu, Li, Qian, Huang, Rong, Liang, Hua, Wang, You. 2022. KCNQ1 variant rs163184 is a potential biomarker of glycemic response to exenatide. In Pharmacogenomics, 23, 355-361. doi:10.2217/pgs-2021-0154. https://pubmed.ncbi.nlm.nih.gov/35311356/
3. Herbert, Ernest, Trusz-Gluza, Maria, Moric, Ewa, Mazurek, Urszula, Wilczok, Tadeusz. . KCNQ1 gene mutations and the respective genotype-phenotype correlations in the long QT syndrome. In Medical science monitor : international medical journal of experimental and clinical research, 8, RA240-8. doi:. https://pubmed.ncbi.nlm.nih.gov/12388934/
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