C57BL/6JCya-Rps19em1flox/Cya
Common Name
Rps19-flox
Product ID
S-CKO-04860
Backgroud
C57BL/6JCya
Strain ID
CKOCMP-20085-Rps19-B6J-VA
Status
When using this mouse strain in a publication, please cite “Rps19-flox Mouse (Catalog S-CKO-04860) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
The standard delivery applies for a guaranteed minimum of three heterozygous carriers. Breeding services for homozygous carriers and/or specified sex are available.
Basic Information
Strain Name
Rps19-flox
Strain ID
CKOCMP-20085-Rps19-B6J-VA
Gene Name
Product ID
S-CKO-04860
Gene Alias
Dsk3
Background
C57BL/6JCya
Gene Full Name
ribosomal protein S19
Modification
Conditional knockout
NCBI ID
Phenotype
Chromosome
Chr 7 (Mouse)
Application
--
Datasheet
Strain Description
Ensembl Transcript ID
ENSMUST00000108430
NCBI Transcript ID
NM_001360119
Target Region
Exon 4~6
Size of Effective Region
~2.3 kb
Overview of Gene Research
Rps19, encoding ribosomal protein S19, is a crucial gene involved in ribosome construction and protein synthesis [1,3,5]. Ribosomes are responsible for translating the genetic code into proteins, and Rps19 is one of the many proteins that make up this complex machinery. Its role in protein synthesis is fundamental to various biological processes in cells.
In Diamond-Blackfan anemia (DBA), a congenital erythroblastopenia, 25% of patients carry a mutation in the Rps19 gene [1]. Studies on DBA patient-derived cells and cells with Rps19 knockdown (KD) have provided insights into its function. DBA patient-derived lymphoblastoid cells and Rps19-KD CD34+ cells show DNA double-strand break (DSB) repair defects [2]. In addition, Rps19-KD in CD34+ cells impairs erythropoiesis and reduces hematopoietic stem cell (HSC) activity, with defects partially corrected by Rps19-expressing lentiviral vector or TP53 disruption [4]. Also, missense mutations of Rps19 in DBA patients lead to unstable mutant proteins, and downregulation of Rps19 in human CD34+ cells causes cell cycle arrest in erythroid progenitor cells [6].
In conclusion, Rps19 is essential for ribosome function and protein synthesis. Its haploinsufficiency, often due to mutations, is associated with DBA. Studies on cells with Rps19-related alterations have revealed its role in DNA DSB repair, erythropoiesis, and HSC activity, contributing to our understanding of DBA pathogenesis.
References：
1. Campagnoli, Maria Francesca, Ramenghi, Ugo, Armiraglio, Marta, Loreni, Fabrizio, Dianzani, Irma. . RPS19 mutations in patients with Diamond-Blackfan anemia. In Human mutation, 29, 911-20. doi:10.1002/humu.20752. https://pubmed.ncbi.nlm.nih.gov/18412286/
2. DeCleene, Nicholas F, Asik, Elif, Sanchez, Anthony, Wang, Yu-Hsiu, Bertuch, Alison A. 2024. RPS19 and RPL5, the most commonly mutated genes in Diamond Blackfan anemia, impact DNA double-strand break repair. In bioRxiv : the preprint server for biology, , . doi:10.1101/2024.10.10.617668. https://pubmed.ncbi.nlm.nih.gov/39416207/
3. Morimoto, Kenji, Lin, Shou, Sakamoto, Kathleen. 2006. The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review. In Molecular genetics and metabolism, 90, 358-62. doi:. https://pubmed.ncbi.nlm.nih.gov/17178250/
4. Bhoopalan, Senthil Velan, Yen, Jonathan S, Mayuranathan, Thiyagaraj, Wlodarski, Marcin W, Weiss, Mitchell J. 2023. An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity. In JCI insight, 8, . doi:10.1172/jci.insight.161810. https://pubmed.ncbi.nlm.nih.gov/36413407/
5. Hiregange, Disha-Gajanan, Rivalta, Andre, Yonath, Ada, Bashan, Anat, Yonath, Hagith. 2022. Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia. In FEBS open bio, 12, 1419-1434. doi:10.1002/2211-5463.13444. https://pubmed.ncbi.nlm.nih.gov/35583751/
6. Kuramitsu, Madoka, Hamaguchi, Isao, Takuo, Mizukami, Naito, Seishirou, Yamaguchi, Kazunari. . Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells. In British journal of haematology, 140, 348-59. doi:10.1111/j.1365-2141.2007.06930.x. https://pubmed.ncbi.nlm.nih.gov/18217898/
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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