C57BL/6JCya-Gmprem1/Cya
Common Name
Gmpr-KO
Product ID
S-KO-18343
Backgroud
C57BL/6JCya
Strain ID
KOCMP-66355-Gmpr-B6J-VB
When using this mouse strain in a publication, please cite “Gmpr-KO Mouse (Catalog S-KO-18343) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Basic Information
Strain Name
Gmpr-KO
Strain ID
KOCMP-66355-Gmpr-B6J-VB
Gene Name
Product ID
S-KO-18343
Gene Alias
2310004P21Rik, GMPR 1
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr 13
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000000260
NCBI RefSeq
NM_025508
Target Region
Exon 5
Size of Effective Region
~1.1 kb
Overview of Gene Research
GMPR, guanosine monophosphate reductase, is a nucleotide metabolism enzyme that converts GMP to IMP, thus decreasing GTP pools [3]. It belongs to the IMPDH/GMPR family of (β/α)(8) barrel enzymes, where reaction specificity is controlled by differences in dynamics [1]. GMPR is involved in maintaining the cellular balance of adenine and guanine nucleotides [4].
In a patient with late-onset disorder of mitochondrial DNA maintenance, a novel heterozygous c.547G>C variant in GMPR was identified. This variant caused aberrant splicing, decreased GMPR protein levels, and was associated with subtle changes in nucleotide homeostasis and disturbed mtDNA maintenance in skeletal muscle [4]. In exome sequencing of 49,960 individuals in the UK Biobank, novel LOF variants in GMPR were found to have large effects on blood cell traits [2].
In conclusion, GMPR is crucial for nucleotide metabolism and maintaining nucleotide homeostasis. Studies on GMPR, such as the identification of variants in patients with mitochondrial DNA-related disorders and the discovery of its impact on blood cell traits, contribute to understanding related biological processes and disease mechanisms.
References：
1. Hedstrom, Lizbeth. 2012. The dynamic determinants of reaction specificity in the IMPDH/GMPR family of (β/α)(8) barrel enzymes. In Critical reviews in biochemistry and molecular biology, 47, 250-63. doi:10.3109/10409238.2012.656843. https://pubmed.ncbi.nlm.nih.gov/22332716/
2. Van Hout, Cristopher V, Tachmazidou, Ioanna, Backman, Joshua D, Yerges-Armstrong, Laura, Baras, Aris. 2020. Exome sequencing and characterization of 49,960 individuals in the UK Biobank. In Nature, 586, 749-756. doi:10.1038/s41586-020-2853-0. https://pubmed.ncbi.nlm.nih.gov/33087929/
3. Wolff, David W, Deng, Zhiyong, Bianchi-Smiraglia, Anna, Hedstrom, Lizbeth, Nikiforov, Mikhail A. 2022. Phosphorylation of guanosine monophosphate reductase triggers a GTP-dependent switch from pro- to anti-oncogenic function of EPHA4. In Cell chemical biology, 29, 970-984.e6. doi:10.1016/j.chembiol.2022.01.007. https://pubmed.ncbi.nlm.nih.gov/35148834/
4. Sommerville, Ewen W, Dalla Rosa, Ilaria, Rosenberg, Masha M, Taylor, Robert W, Gorman, Gráinne S. 2019. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance. In Clinical genetics, 97, 276-286. doi:10.1111/cge.13652. https://pubmed.ncbi.nlm.nih.gov/31600844/
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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