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C57BL/6JCya-Gmprem1/Cya
Common Name:
Gmpr-KO
Product ID:
S-KO-18343
Background:
C57BL/6JCya
Product Type
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Genotype
Sex
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Basic Information
Strain Name
Gmpr-KO
Strain ID
KOCMP-66355-Gmpr-B6J-VB
Gene Name
Gmpr
Product ID
S-KO-18343
Gene Alias
2310004P21Rik; GMPR 1
Background
C57BL/6JCya
NCBI ID
66355
Modification
Conventional knockout
Chromosome
13
Phenotype
MGI:1913605
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/6JCya-Gmprem1/Cya mice (Catalog S-KO-18343) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000000260
NCBI RefSeq
NM_025508
Target Region
Exon 5
Size of Effective Region
~1.1 kb
Detailed Document
Click here to download >>
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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