C57BL/6JCya-Rps17em1flox/Cya
Common Name:
Rps17-flox
Product ID:
S-CKO-04859
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Rps17-flox
Strain ID
CKOCMP-20068-Rps17-B6J-VA
Gene Name
Product ID
S-CKO-04859
Gene Alias
--
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
7
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Rps17em1flox/Cya mice (Catalog S-CKO-04859) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000080813
NCBI RefSeq
NM_009092
Target Region
Exon 3~5
Size of Effective Region
~2.4 kb
Detailed Document
Overview of Gene Research
Rps17, encoding ribosomal protein S17, is a crucial gene. It is involved in ribosome assembly, which is essential for protein synthesis, a fundamental biological process. Understanding its function can be enhanced through genetic models like gene-knockout (KO) or conditional-knockout (CKO) mouse models for in-vivo studies.
In Diamond-Blackfan Anemia (DBA), a ribosomopathy characterized by bone marrow erythroid hypoplasia, mutations in Rps17 have been identified. For instance, a mutation affecting the translation initiation start codon (c.2T>G) was found, eliminating the natural start of RPS17 protein biosynthesis [2]. Another novel mutation (c.1A>G) in the translation initiation codon was reported in a Korean DBA patient [3]. Transcriptomic analysis of DBA patients showed significant down-regulation of SLC4A1 in RPS17-mutated cases. Zebrafish models with rps17 knockdown exhibited reduced erythropoiesis and impaired hemoglobin synthesis, along with decreased slc4a1a expression, highlighting SLC4A1 as a key downstream target of RPS17 haploinsufficiency [1].
In conclusion, Rps17 plays a vital role in ribosome-related processes and is significantly associated with Diamond-Blackfan Anemia. Studies using models like zebrafish have provided insights into the molecular mechanisms of DBA related to Rps17, such as its downstream effects on erythropoiesis. These findings contribute to understanding the pathogenesis of DBA and may offer potential therapeutic targets for this disorder.
References:
1. Kim, Kyeongmin, Lee, Hyerin, Ahn, Soyul, Kim, Yun Hak, Oh, Chang-Kyu. 2025. Unveiling the role of RPS17 and SLC4A1 in diamond-Blackfan Anemia: A zebrafish-based study. In Blood cells, molecules & diseases, 112, 102912. doi:10.1016/j.bcmd.2025.102912. https://pubmed.ncbi.nlm.nih.gov/40015014/
2. Cmejla, Radek, Cmejlova, Jana, Handrkova, Helena, Petrak, Jiri, Pospisilova, Dagmar. . Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. In Human mutation, 28, 1178-82. doi:. https://pubmed.ncbi.nlm.nih.gov/17647292/
3. Song, Min-Jung, Yoo, Eun-Hyung, Lee, Ki-O, Kim, Sun-Young, Kim, Sun-Hee. . A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia. In Pediatric blood & cancer, 54, 629-31. doi:10.1002/pbc.22316. https://pubmed.ncbi.nlm.nih.gov/19953637/
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