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C57BL/6NCya-Pus3em1flox/Cya
Common Name:
Pus3-flox
Product ID:
S-CKO-18145
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Pus3-flox
Strain ID
CKOCMP-67049-Pus3-B6N-VA
Gene Name
Pus3
Product ID
S-CKO-18145
Gene Alias
2610020J05Rik; 5730412F04Rik
Background
C57BL/6NCya
NCBI ID
67049
Modification
Conditional knockout
Chromosome
9
Phenotype
MGI:1914299
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Pus3em1flox/Cya mice (Catalog S-CKO-18145) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000034615
NCBI RefSeq
NM_023292
Target Region
Exon 2~4
Size of Effective Region
~2.4 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Pus3, or pseudouridine synthase 3, is an enzyme that catalyzes pseudouridylation of position 38/39 in tRNAs, playing a critical role in tRNA structure, function, and stability [1,3]. Pseudouridine (Ψ) is an isomer of uridine, ubiquitously present in RNA such as tRNA, rRNA, and mRNA [1]. Understanding Pus3 function can be facilitated by genetic models like gene knockout (KO) models.

Genomic mutations in PUS3 have been identified in patients with neurodevelopmental disorders. For instance, certain mutations in PUS3, such as p.Tyr71Cys and p.Ile299Thr, can lead to reduced protein thermostability, aggregation, and decreased PUS3-dependent Ψ levels in patient fibroblasts, thus explaining the observed clinical phenotypes [2]. Biallelic pathogenic variants of PUS3 are associated with severe intellectual disability, microcephaly, epilepsy, short stature, and other phenotypes, expanding the phenotypic spectrum of PUS3-related disorders [3,4]. In yeast, absence of the homologous Deg1/Pus3 results in increased lipid droplet content, translational defects, and lipidome remodeling, indicating its role in coordinating lipid storage and mobilization [5].

In conclusion, Pus3 is essential for tRNA modification, with its dysfunction linked to various neurodevelopmental and other disorders. Studies using genetic models, though not specifically KO/CKO mouse models in the provided references, have helped uncover its role in biological processes and disease conditions, offering insights into the molecular mechanisms underlying these diseases.

References:
1. Lin, Ting-Yu, Kleemann, Leon, Jeżowski, Jakub, Leidel, Sebastian A, Glatt, Sebastian. . The molecular basis of tRNA selectivity by human pseudouridine synthase 3. In Molecular cell, 84, 2472-2489.e8. doi:10.1016/j.molcel.2024.06.013. https://pubmed.ncbi.nlm.nih.gov/38996458/
2. Lin, Ting-Yu, Smigiel, Robert, Kuzniewska, Bozena, Ploski, Rafał, Glatt, Sebastian. 2022. Destabilization of mutated human PUS3 protein causes intellectual disability. In Human mutation, 43, 2063-2078. doi:10.1002/humu.24471. https://pubmed.ncbi.nlm.nih.gov/36125428/
3. Borghesi, Alessandro, Plumari, Massimo, Rossi, Elena, Valente, Enza Maria, Gana, Simone. 2021. PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum. In American journal of medical genetics. Part A, 188, 635-641. doi:10.1002/ajmg.a.62547. https://pubmed.ncbi.nlm.nih.gov/34713961/
4. Nøstvik, Miriam, Kateta, Sarah M, Schönewolf-Greulich, Bitten, Møller, Rikke S, Tümer, Zeynep. 2021. Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders. In Clinical genetics, 100, 628-633. doi:10.1111/cge.14051. https://pubmed.ncbi.nlm.nih.gov/34415064/
5. Matos, Gabriel Soares, Vogt, Leonie, Santos, Rosangela Silva, Montero-Lomeli, Monica, Klassen, Roland. 2023. Lipidome remodeling in response to nutrient replenishment requires the tRNA modifier Deg1/Pus3 in yeast. In Molecular microbiology, 120, 893-905. doi:10.1111/mmi.15185. https://pubmed.ncbi.nlm.nih.gov/37864403/
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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