C57BL/6JCya-Tsfmem1flox/Cya
Common Name:
Tsfm-flox
Product ID:
S-CKO-18895
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Tsfm-flox
Strain ID
CKOCMP-66399-Tsfm-B6J-VB
Gene Name
Product ID
S-CKO-18895
Gene Alias
2310050B20Rik; 9430024O13Rik; EF-TS; EF-Tsmt
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
10
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Tsfmem1flox/Cya mice (Catalog S-CKO-18895) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000040560
NCBI RefSeq
NM_025537
Target Region
Exon 3~5
Size of Effective Region
~5.3 kb
Detailed Document
Overview of Gene Research
TSFM, encoding the elongation factor Ts (EFTs), is a nuclear gene and an essential part of the mitochondrial translational machinery. It forms a complex with mitochondrial Tu translation elongation factor (TUFM) to participate in mitochondrial protein translation, playing a crucial role in the elongation step of mitochondrial translation by binding and stabilizing EF-Tu [2,3,6].
Mutations in TSFM are associated with various disorders. For instance, in a 5-year-old boy, a novel homozygous TSFM variant c.547G>A (p.Gly183Ser) was identified, leading to infantile early-onset encephalocardiomyopathy, sensorineural hearing loss, and peculiar partially reversible neuroimaging features, expanding the phenotypic spectrum of TSFM-related encephalopathy [2]. A 3-year-old female with compound heterozygous variants in TSFM presented with hypertrophic cardiomyopathy and lactic acidosis, and a 33-year-old woman with two novel compound heterozygous variants in TSFM had mitochondrial cardiomyopathy with dilated phenotype and biventricular fibro-adipose replacement [5,6]. Additionally, TSFM mutations can cause a complex hyperkinetic movement disorder [1], and novel mutations in the gene can lead to early-onset complex chorea without basal ganglia lesions [4].
In conclusion, TSFM is vital for mitochondrial protein translation. Research on TSFM-related genetic mutations in patients reveals its significant role in multiple disease areas, including neurodegenerative and cardiomyopathic disorders. Understanding TSFM helps in unravelling the mechanisms underlying these diseases and may provide directions for future treatment strategies.
References:
1. Traschütz, Andreas, Hayer, Stefanie N, Bender, Benjamin, Biskup, Saskia, Synofzik, Matthis. 2018. TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids. In Parkinsonism & related disorders, 60, 176-178. doi:10.1016/j.parkreldis.2018.09.031. https://pubmed.ncbi.nlm.nih.gov/30297209/
2. Scala, Marcello, Brigati, Giorgia, Fiorillo, Chiara, Minetti, Carlo, Santorelli, F M. 2019. Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings. In Neurogenetics, 20, 165-172. doi:10.1007/s10048-019-00582-5. https://pubmed.ncbi.nlm.nih.gov/31267352/
3. Li, Xiao-Yun, Zhou, Gui-Feng, Xie, Xiong-Yong, Wang, Lu, Chen, Guo-Jun. 2024. Short-term regulation of TSFM level does not alter amyloidogenesis and mitochondrial function in type-specific cells. In Molecular biology reports, 51, 484. doi:10.1007/s11033-024-09426-4. https://pubmed.ncbi.nlm.nih.gov/38578353/
4. van Riesen, Anne K, Biskup, Saskia, Kühn, Andrea A, Kaindl, Angela M, van Riesen, Christoph. 2021. Novel Mutation in the TSFM Gene Causes an Early-Onset Complex Chorea without Basal Ganglia Lesions. In Movement disorders clinical practice, 8, 453-455. doi:10.1002/mdc3.13144. https://pubmed.ncbi.nlm.nih.gov/33816677/
5. Yang, Jamie O, Shaybekyan, Hapet, Zhao, Yan, Nelson, Stanley F, Touma, Marlin. 2022. Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy. In Frontiers in cardiovascular medicine, 8, 798985. doi:10.3389/fcvm.2021.798985. https://pubmed.ncbi.nlm.nih.gov/35071363/
6. Perli, Elena, Pisano, Annalinda, Glasgow, Ruth I C, d'Amati, Giulia, Giordano, Carla. 2019. Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement. In Scientific reports, 9, 5108. doi:10.1038/s41598-019-41483-9. https://pubmed.ncbi.nlm.nih.gov/30911037/
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