C57BL/6JCya-Kcnh1em1/Cya
Common Name:
Kcnh1-KO
Product ID:
S-KO-18843
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Kcnh1-KO
Strain ID
KOCMP-16510-Kcnh1-B6J-VB
Gene Name
Product ID
S-KO-18843
Gene Alias
EAG1; Kv10.1; M-eag
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
1
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Kcnh1em1/Cya mice (Catalog S-KO-18843) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000078470
NCBI RefSeq
NM_010600
Target Region
Exon 5
Size of Effective Region
~1.2 kb
Detailed Document
Overview of Gene Research
Kcnh1, also known as potassium voltage-gated channel subfamily H member 1, encodes a member of the EAG (ether-à-go-go) family. It controls potassium flux regulating resting membrane potential in both excitable and non-excitable cells, and is involved in intracellular signaling, cell proliferation, and tumorigenesis [3].
Kcnh1 missense variants have been associated with multiple syndromic neurodevelopmental disorders. In Temple-Baraitser syndrome (TMBTS), a patient was found with a pathogenic missense mutation in Kcnh1 (c. 1529 A > C; Asn510Thr), presenting with features like severe mental retardation, anomalies of thumb and great toe with nail absence/hypoplasia [1]. Mutations in Kcnh1 are also related to Zimmermann-Laband syndrome 1 (ZLS1), and epilepsy is a key phenotypic feature in most individuals with Kcnh1-related syndromes [4]. Additionally, in osteosarcoma, circ_0016347 promotes tumor progression through the miR-1225-3p/Kcnh1 axis [2].
In conclusion, Kcnh1 is crucial for regulating potassium flux and is involved in various biological processes. Its mutations are associated with multiple neurodevelopmental disorders and diseases like osteosarcoma. Understanding Kcnh1 through genetic models can provide insights into the molecular mechanisms underlying these conditions, potentially leading to new therapeutic strategies for related diseases.
References:
1. Wang, Hui, Zhang, Xiaohua, Ding, Hongfang. . Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report. In Clinical dysmorphology, 30, 27-31. doi:10.1097/MCD.0000000000000345. https://pubmed.ncbi.nlm.nih.gov/32956079/
2. Li, Zhengmao, Fu, Yong, Ouyang, Wei, Wang, Xin, Tan, Wenfu. 2021. Circ_0016347 Promotes Osteosarcoma Progression by Regulating miR-1225-3p/KCNH1 Axis. In Cancer biotherapy & radiopharmaceuticals, 38, 619-631. doi:10.1089/cbr.2019.3349. https://pubmed.ncbi.nlm.nih.gov/33764794/
3. Napoli, Giulia, Panzironi, Noemi, Traversa, Alice, Parisi, Chiara, Caputo, Viviana. 2022. Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis. In Molecular neurobiology, 59, 4825-4838. doi:10.1007/s12035-022-02886-4. https://pubmed.ncbi.nlm.nih.gov/35639255/
4. Mastrangelo, Mario, Scheffer, Ingrid E, Bramswig, Nuria C, Van Essen, Anthonie J, Leuzzi, Vincenzo. . Epilepsy in KCNH1-related syndromes. In Epileptic disorders : international epilepsy journal with videotape, 18, 123-36. doi:10.1684/epd.2016.0830. https://pubmed.ncbi.nlm.nih.gov/27267311/
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