C57BL/6JCya-Gmprem1flox/Cya
Common Name:
Gmpr-flox
Product ID:
S-CKO-13030
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Gmpr-flox
Strain ID
CKOCMP-66355-Gmpr-B6J-VA
Gene Name
Product ID
S-CKO-13030
Gene Alias
2310004P21Rik; GMPR 1
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
13
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gmprem1flox/Cya mice (Catalog S-CKO-13030) 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
Overview of Gene Research
Gmpr, guanosine monophosphate reductase, is a nucleotide metabolism enzyme that decreases GTP pools by converting GMP to IMP, thus maintaining the cellular balance of adenine and guanine nucleotides [3,5]. It belongs to the IMPDH/GMPR family of (β/α)(8) barrel enzymes, sharing catalytic residues and ligand-binding properties with IMPDH [1]. In the body, it is involved in cellular metabolic pathways and is an important target for anti-leukemic agents [4].
Exome sequencing in the UK Biobank revealed novel Gmpr loss-of-function (LOF) variants with large effects on blood cell traits [2]. In a patient with a late-onset disorder of mitochondrial DNA maintenance, a novel heterozygous Gmpr variant was identified, causing aberrant splicing, decreased protein levels, and subtle changes in nucleotide homeostasis and mtDNA maintenance [5].
In conclusion, Gmpr is crucial for nucleotide metabolism and homeostasis. Findings from human genetic studies, such as those in the UK Biobank and in patients with mitochondrial DNA disorders, highlight its role in blood cell traits and mitochondrial DNA maintenance, providing insights into related disease mechanisms [2,5].
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. Bairagya, Hridoy R, Tasneem, Alvea, Rai, Gyan Prakash, Reyaz, Saima. 2021. New biochemical insights into the dynamics of water molecules at the GMP or IMP binding site of human GMPR enzyme: A molecular dynamics study. In Proteins, 90, 200-217. doi:10.1002/prot.26207. https://pubmed.ncbi.nlm.nih.gov/34368983/
5. 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