C57BL/6JCya-Klhl26em1flox/Cya
Common Name:
Klhl26-flox
Product ID:
S-CKO-07731
Background:
C57BL/6JCya
Product Type
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Genotype
Sex
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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
8
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Klhl26em1flox/Cya mice (Catalog S-CKO-07731) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000066597
NCBI RefSeq
NM_178771
Target Region
Exon 3
Size of Effective Region
~3.7 kb
Detailed Document
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