C57BL/6NCya-Gtpbp3em1flox/Cya
Common Name:
Gtpbp3-flox
Product ID:
S-CKO-14794
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Gtpbp3-flox
Strain ID
CKOCMP-70359-Gtpbp3-B6N-VA
Gene Name
Product ID
S-CKO-14794
Gene Alias
2410009F13Rik
Background
C57BL/6NCya
NCBI ID
Modification
Conditional knockout
Chromosome
8
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Gtpbp3em1flox/Cya mice (Catalog S-CKO-14794) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000007754
NCBI RefSeq
NM_032544
Target Region
Exon 4~7
Size of Effective Region
~1.8 kb
Detailed Document
Overview of Gene Research
Gtpbp3, a human mitochondrial tRNA-modifying enzyme, is highly conserved. It collaborates with MTO1 to catalyze 5-taurinomethyluridine (τm5U) biosynthesis at the 34th wobble position of mitochondrial tRNAs, such as tRNAGlu, tRNAGln, tRNALys, tRNATrp and tRNALeu(UUR) [2,3]. This modification is crucial for mitochondrial translation and oxidative phosphorylation [1].
In zebrafish, deletion of gtpbp3 using the Nuclease technology system led to aberrant mitochondrial tRNA metabolism. There were alterations in tRNA functional folding, increased aminoacylated efficiencies of mitochondrial tRNAs, impaired mitochondrial translation, proteostasis stress, and changes in respiratory chain complex activities. These ultimately caused embryonic heart development alterations, reduced ventricular fractional shortening, cardiomyocyte hypertrophy, and myocardial fiber disarray, recapitulating the phenotypes of hypertrophic cardiomyopathy (HCM) patients with GTPBP3 mutations [2].
In conclusion, Gtpbp3 is fundamental for mitochondrial tRNA modification, which is essential for mitochondrial translation and proper function. The zebrafish gtpbp3 knockout model has revealed its role in HCM, highlighting the importance of Gtpbp3-mediated tRNA modification in normal cardiac development and the pathogenesis of HCM.
References：
1. Morscher, Raphael J, Ducker, Gregory S, Li, Sophia Hsin-Jung, Sperl, Wolfgang, Rabinowitz, Joshua D. 2018. Mitochondrial translation requires folate-dependent tRNA methylation. In Nature, 554, 128-132. doi:10.1038/nature25460. https://pubmed.ncbi.nlm.nih.gov/29364879/
2. Chen, Danni, Zhang, Zengming, Chen, Chao, Wang, Meng, Guan, Min-Xin. . Deletion of Gtpbp3 in zebrafish revealed the hypertrophic cardiomyopathy manifested by aberrant mitochondrial tRNA metabolism. In Nucleic acids research, 47, 5341-5355. doi:10.1093/nar/gkz218. https://pubmed.ncbi.nlm.nih.gov/30916346/
3. Peng, Gui-Xin, Zhang, Yong, Wang, Qin-Qin, Wang, En-Duo, Zhou, Xiao-Long. . The human tRNA taurine modification enzyme GTPBP3 is an active GTPase linked to mitochondrial diseases. In Nucleic acids research, 49, 2816-2834. doi:10.1093/nar/gkab104. https://pubmed.ncbi.nlm.nih.gov/33619562/
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