C57BL/6JCya-Mrps28em1flox/Cya
Common Name:
Mrps28-flox
Product ID:
S-CKO-12957
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Mrps28-flox
Strain ID
CKOCMP-66230-Mrps28-B6J-VA
Gene Name
Product ID
S-CKO-12957
Gene Alias
1500012D08Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
3
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Mrps28em1flox/Cya mice (Catalog S-CKO-12957) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000042148
NCBI RefSeq
NM_025434
Target Region
Exon 2
Size of Effective Region
~2.3 kb
Detailed Document
Overview of Gene Research
Mrps28 encodes the small mitoribosomal subunit protein bS1m. Mitochondrial ribosomal proteins like Mrps28 are essential for the structural and functional integrity of the mitoribosome complex, which is responsible for intramitochondrial synthesis of polypeptides crucial for oxidative phosphorylation (OXPHOS) complexes [1,2].
Mutations in the MRPS28 gene in a patient led to intrauterine growth retardation, craniofacial dysmorphism, and developmental delay. The identified variants decreased the abundance of the bS1m protein, disrupted mitoribosomal assembly, inhibited mitochondrial translation, and compromised OXPHOS biogenesis and cellular respiration. Expression of wild-type MRPS28 restored these functions, demonstrating the gene's essential role in mitochondrial processes [2].
In conclusion, Mrps28 is vital for mitoribosome-related functions and mitochondrial translation. Its dysfunction can lead to severe developmental and multisystemic disorders, highlighting the importance of understanding its role for potential insights into mitochondrial disease mechanisms [2].
References：
1. Cheong, Agnes, Lingutla, Ranjana, Mager, Jesse. 2020. Expression analysis of mammalian mitochondrial ribosomal protein genes. In Gene expression patterns : GEP, 38, 119147. doi:10.1016/j.gep.2020.119147. https://pubmed.ncbi.nlm.nih.gov/32987154/
2. Pulman, Juliette, Ruzzenente, Benedetta, Bianchi, Lucas, Rötig, Agnès, Metodiev, Metodi D. . Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement. In Human molecular genetics, 28, 1445-1462. doi:10.1093/hmg/ddy441. https://pubmed.ncbi.nlm.nih.gov/30566640/
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