C57BL/6JCya-Klhl26em1/Cya
Common Name
Klhl26-KO
Product ID
S-KO-16531
Backgroud
C57BL/6JCya
Strain ID
KOCMP-234378-Klhl26-B6J-VB
When using this mouse strain in a publication, please cite “Klhl26-KO Mouse (Catalog S-KO-16531) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Basic Information
Strain Name
Klhl26-KO
Strain ID
KOCMP-234378-Klhl26-B6J-VB
Gene Name
Product ID
S-KO-16531
Gene Alias
C630013N10Rik, Klkl26
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr 8
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000066597
NCBI RefSeq
NM_178771.3
Target Region
Exon 3
Size of Effective Region
~3.7 kb
Overview of Gene Research
Klhl26, Kelch-like family member 26, is implicated in ubiquitin-mediated protein degradation. It binds to Cullin3 (CUL3), a component of E3 ubiquitin ligase, and may play a role in pathways related to cardiac development and potentially other biological processes [1].
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 affected individuals and was predicted to disrupt electrostatic interactions when binding to CUL3, suggesting its role in the ubiquitin-proteasome pathway during cardiac development [1]. Patient-specific iPSC-CMs with this KLHL26 (p.R237C) variant showed aberrant morphology, including distended endo(sarco)plasmic reticulum and dysmorphic mitochondria, and aberrant function like decreased contractions, altered calcium transients, and increased proliferation [2].
In conclusion, Klhl26 is important for ubiquitin-mediated protein degradation, with its disruption potentially leading to cardiac defects such as EA and LVNC. Studies on Klhl26, especially with the identified variants, contribute to understanding the pathogenesis of these congenital heart diseases and may provide insights for future therapeutic strategies [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/
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
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