C57BL/6JCya-Klhl26em1flox/Cya
Common Name
Klhl26-flox
Product ID
S-CKO-07731
Backgroud
C57BL/6JCya
Strain ID
CKOCMP-234378-Klhl26-B6J-VA
When using this mouse strain in a publication, please cite “Klhl26-flox Mouse (Catalog S-CKO-07731) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Basic Information
Strain Name
Klhl26-flox
Strain ID
CKOCMP-234378-Klhl26-B6J-VA
Gene Name
Product ID
S-CKO-07731
Gene Alias
C630013N10Rik, Klkl26
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
Chr 8
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000066597
NCBI RefSeq
NM_178771
Target Region
Exon 3
Size of Effective Region
~3.7 kb
Overview of Gene Research
Klhl26, Kelch-like family member 26, may be involved in ubiquitin-mediated protein degradation as it can bind to Cullin3, a component of E3 ubiquitin ligase. It has also been associated with the p53 regulatory network in murine cells [3].
In a familial case of Ebstein's anomaly (EA) and left ventricular noncompaction (LVNC), a novel KLHL26 (c.709C > T p.R237C) variant was identified. This variant segregated only with EA/LVNC-affected individuals. Protein prediction models suggested it disrupts electrostatic interactions when binding to part of the ubiquitin proteasome [1].
iPSC-CMs containing this KLHL26 (p.R237C) variant showed aberrant morphology like distended endo(sarco)plasmic reticulum and dysmorphic mitochondria, and aberrant function including decreased contractions, altered calcium transients, and increased proliferation [2].
In conclusion, Klhl26 may play a crucial role in cardiac development through its possible involvement in ubiquitin-mediated protein degradation. The identified variant in Klhl26 is associated with EA and LVNC, highlighting its significance in understanding the genetic etiology of these congenital heart diseases [1,2].
References：
1. Samudrala, Sai Suma K, North, Lauren M, Stamm, Karl D, Mitchell, Michael E, Tomita-Mitchell, Aoy. 2020. Novel KLHL26 variant associated with a familial case of Ebstein's anomaly and left ventricular noncompaction. In Molecular genetics & genomic medicine, 8, e1152. doi:10.1002/mgg3.1152. https://pubmed.ncbi.nlm.nih.gov/31985165/
2. Thareja, Suma K, Anfinson, Melissa, Cavanaugh, Matthew, Mitchell, Michael E, Tomita-Mitchell, Aoy. 2023. Altered contractility, Ca2+ transients, and cell morphology seen in a patient-specific iPSC-CM model of Ebstein's anomaly with left ventricular noncompaction. In American journal of physiology. Heart and circulatory physiology, 325, H149-H162. doi:10.1152/ajpheart.00658.2022. https://pubmed.ncbi.nlm.nih.gov/37204873/
3. Simeonova, Iva, Lejour, Vincent, Bardot, Boris, Charbonnier, Laure, Toledo, Franck. 2012. Fuzzy tandem repeats containing p53 response elements may define species-specific p53 target genes. In PLoS genetics, 8, e1002731. doi:10.1371/journal.pgen.1002731. https://pubmed.ncbi.nlm.nih.gov/22761580/
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
Contact Us
Connect with our experts for your custom animal model needs. Please fill out the form below to start a conversation or request a quote.
Cyagen values your privacy. We’d like to keep you informed about our latest offerings and insights. Your preferences:
You may unsubscribe from these communications at any time. See our Privacy Policy for details on opting out and data protection.
By clicking the button below, you consent to allow Cyagen to store and process the personal information submitted in this form to provide you the content requested.