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C57BL/6JCya-Etfbkmtem1flox/Cya
Common Name:
Etfbkmt-flox
Product ID:
S-CKO-10407
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Etfbkmt-flox
Strain ID
CKOCMP-320204-Etfbkmt-B6J-VA
Gene Name
Etfbkmt
Product ID
S-CKO-10407
Gene Alias
4833442J19Rik; ETFB-KMT; Mettl20
Background
C57BL/6JCya
NCBI ID
320204
Modification
Conditional knockout
Chromosome
6
Phenotype
MGI:2443575
Document
Click here to download >>
Application
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More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Etfbkmtem1flox/Cya mice (Catalog S-CKO-10407) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000179873
NCBI RefSeq
NM_001252096
Target Region
Exon 3
Size of Effective Region
~2.0 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Etfbkmt, also known as ETFβ-KMT according to a proposed renaming [7], is likely related to the methylation process of the β-subunit of electron transfer flavoprotein (ETFβ) as METTL20, its associated enzyme, is a mitochondrial, lysine-specific methyltransferase targeting ETFβ [5,6,7]. ETF plays a key role in mediating electron transfer from various dehydrogenases in processes like fatty acid oxidation and one-carbon metabolism, linking them to the membrane-associated ubiquinone pool [6].

In the study of liver fibrosis, transcriptomic analysis of liver-specific MED1 deletion (MED1ΔLiv) mice treated with carbon tetrachloride (CCl4) showed that Etfbkmt was among the oxidoreductase activity-related genes with robust reduction. This reduction of Etfbkmt, along with other genes, was associated with inhibited TGF-β/Smad2/3 signaling pathway and decreased expression of fibrotic markers, suggesting a potential link between Etfbkmt and hepatic fibrogenesis [1].

In cows, Etfbkmt was identified as a candidate gene related to reproductive traits such as Cow conception rate (CCR), Daughter pregnancy rate (DPR), and Heifer conception rate (HCR), and is involved in the "generation of precursor metabolites and energy" process [2].

In a patient with Kallmann syndrome (KS) and intellectual disability (ID) carrying a cryptic microdeletion del(12)(p11.21p11.23), Etfbkmt was identified as a candidate gene for the neurodevelopmental disorder, with high-level expression in relevant human tissues further supporting its candidacy [3,4].

In conclusion, Etfbkmt is involved in multiple biological processes. Model-based research, such as the MED1ΔLiv mouse model in liver fibrosis study, helps reveal its potential role in disease-related processes. Its identification in reproductive traits of cows and as a candidate gene in neurodevelopmental disorders also highlights its importance in different biological contexts, providing insights for further research on related diseases and biological functions.

References:
1. Gao, Jie, Bao, Miaoye, Xing, Yuanming, Liu, Enqi, Bai, Liang. 2023. Mediator subunit MED1 deficiency prevents carbon tetrachloride-induced hepatic fibrosis in mice. In American journal of physiology. Gastrointestinal and liver physiology, 325, G418-G428. doi:10.1152/ajpgi.00076.2023. https://pubmed.ncbi.nlm.nih.gov/37668531/
2. Hosseinzadeh, Sevda, Rafat, Seyed Abbas, Fang, Lingzhao. 2025. Integrated TWAS, GWAS, and RNAseq results identify candidate genes associated with reproductive traits in cows. In Scientific reports, 15, 1932. doi:10.1038/s41598-024-82448-x. https://pubmed.ncbi.nlm.nih.gov/39809816/
3. Ben-Mahmoud, Afif, Kishikawa, Shotaro, Gupta, Vijay, Layman, Lawrence C, Kim, Hyung-Goo. 2023. A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome. In Scientific reports, 13, 12984. doi:10.1038/s41598-023-40037-4. https://pubmed.ncbi.nlm.nih.gov/37563198/
4. Ben-Mahmoud, Afif, Kishikawa, Shotaro, Gupta, Vijay, Layman, Lawrence C, Kim, Hyung-Goo. 2023. A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome. In Research square, , . doi:10.21203/rs.3.rs-2572736/v1. https://pubmed.ncbi.nlm.nih.gov/37034680/
5. Małecki, Jędrzej, Dahl, Helge-André, Moen, Anders, Davydova, Erna, Falnes, Pål Ø. 2016. The METTL20 Homologue from Agrobacterium tumefaciens Is a Dual Specificity Protein-lysine Methyltransferase That Targets Ribosomal Protein L7/L12 and the β Subunit of Electron Transfer Flavoprotein (ETFβ). In The Journal of biological chemistry, 291, 9581-95. doi:10.1074/jbc.M115.709261. https://pubmed.ncbi.nlm.nih.gov/26929405/
6. Rhein, Virginie F, Carroll, Joe, He, Jiuya, Fearnley, Ian M, Walker, John E. 2014. Human METTL20 methylates lysine residues adjacent to the recognition loop of the electron transfer flavoprotein in mitochondria. In The Journal of biological chemistry, 289, 24640-51. doi:10.1074/jbc.M114.580464. https://pubmed.ncbi.nlm.nih.gov/25023281/
7. Małecki, Jędrzej, Ho, Angela Y Y, Moen, Anders, Dahl, Helge-André, Falnes, Pål Ø. 2014. Human METTL20 is a mitochondrial lysine methyltransferase that targets the β subunit of electron transfer flavoprotein (ETFβ) and modulates its activity. In The Journal of biological chemistry, 290, 423-34. doi:10.1074/jbc.M114.614115. https://pubmed.ncbi.nlm.nih.gov/25416781/
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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