C57BL/6JCya-Kcnh1em1flox/Cya
Common Name:
Kcnh1-flox
Product ID:
S-CKO-03219
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Kcnh1-flox
Strain ID
CKOCMP-16510-Kcnh1-B6J-VA
Gene Name
Product ID
S-CKO-03219
Gene Alias
EAG1; Kv10.1; M-eag
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
1
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Kcnh1em1flox/Cya mice (Catalog S-CKO-03219) 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 the resting membrane potential in both excitable and non-excitable cells, and is involved in intracellular signaling, cell proliferation, and tumorigenesis [4].
Mutations in Kcnh1 have been associated with multiple syndromic neurodevelopmental disorders. In Temple-Baraitser syndrome, a patient was found to have a pathogenic missense mutation in Kcnh1 (c. 1529 A > C; Asn510Thr) presenting with severe mental retardation, anomalies of thumb and great toe, and absence/hypoplasia of the nails [1]. In Zimmermann-Laband syndrome, heterozygous missense mutations in Kcnh1 account for a proportion of cases, with associated facial dysmorphism, intellectual disability, nail and terminal phalangeal hypoplasia/aplasia, and hypertrichosis [5]. Epilepsy is a key phenotypic feature in most individuals with Kcnh1-related syndromes [2]. Also, Kcnh1 may be related to coronary artery ectasia [3], and its missense variants perturb cilia morphology, assembly/disassembly, and Sonic Hedgehog signaling [4].
In conclusion, Kcnh1 is crucial for regulating potassium flux and has diverse functions in intracellular signaling and cell processes. Its mutations are associated with multiple neurodevelopmental and other disorders, highlighting its significance in understanding the molecular mechanisms underlying these conditions.
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. 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/
3. Noori, Mohammad Rafi, Zhang, Bo, Pan, Lifei. 2019. Is KCNH1 mutation related to coronary artery ectasia. In BMC cardiovascular disorders, 19, 296. doi:10.1186/s12872-019-01276-4. https://pubmed.ncbi.nlm.nih.gov/31847810/
4. 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/
5. Kortüm, Fanny, Caputo, Viviana, Bauer, Christiane K, Tartaglia, Marco, Kutsche, Kerstin. 2015. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. In Nature genetics, 47, 661-7. doi:10.1038/ng.3282. https://pubmed.ncbi.nlm.nih.gov/25915598/
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