C57BL/6JCya-Umpsem1flox/Cya
Common Name:
Umps-flox
Product ID:
S-CKO-06542
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Umps-flox
Strain ID
CKOCMP-22247-Umps-B6J-VA
Gene Name
Product ID
S-CKO-06542
Gene Alias
1700095D23Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
16
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Umpsem1flox/Cya mice (Catalog S-CKO-06542) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000023510
NCBI RefSeq
NM_009471
Target Region
Exon 3~4
Size of Effective Region
~2.9 kb
Detailed Document
Overview of Gene Research
Uridine 5'-monophosphate synthase (UMPS) is an enzyme involved in de novo pyrimidine biosynthesis. This pathway also involves cytosolic carbamoyl-phosphate synthetase II, aspartate transcarbamylase, dihydroorotase (CAD), and mitochondrial dihydroorotate dehydrogenase (DHODH). UMPS is crucial for generating uridine monophosphate, which is essential for DNA and RNA synthesis, thus playing a fundamental role in cell proliferation and various biological processes [1].
Mutations in the UMPS gene can lead to hereditary orotic aciduria (HOA), a rare inborn error of pyrimidine metabolism. In a reported case, a 17-year-old Emirati girl with a novel homozygous variant in the UMPS gene presented with recurrent infections, pancytopenia, failure to thrive, developmental delay, and epilepsy. Treatment with uridine triacetate led to clinical, hematologic, and biochemical improvement [2]. Another study identified a novel missense mutation c.517G>C in the UMPS gene associated with mild orotic aciduria in a Chinese-origin pedigree. The proband had epilepsy and intellectual disability, while other mutation carriers had mild orotic aciduria without relevant medical complaints [3]. Heterozygous UMPS mutations can also lead to mild and isolated orotic aciduria without clinical consequence, as seen in 11 unrelated individuals and 19 clinically asymptomatic family members [4].
In conclusion, UMPS is essential for de novo pyrimidine biosynthesis, which is vital for DNA and RNA synthesis and cell proliferation. Research on UMPS-related mutations in models, though not directly from KO/CKO mouse models in the provided references, has revealed its role in rare genetic disorders like hereditary orotic aciduria. Understanding UMPS function and its associated mutations can potentially contribute to better diagnosis and treatment of such diseases.
References:
1. Yang, Chuanzhen, Zhao, Yiliang, Wang, Liao, Fu, Yanxia, Li, Binghui. 2023. De novo pyrimidine biosynthetic complexes support cancer cell proliferation and ferroptosis defence. In Nature cell biology, 25, 836-847. doi:10.1038/s41556-023-01146-4. https://pubmed.ncbi.nlm.nih.gov/37291265/
2. Al Absi, Hebah S, Sacharow, Stephanie, Al Zein, Naser, Al Shamsi, Aisha, Al Teneiji, Amal. 2021. Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation. In Molecular genetics and metabolism reports, 26, 100703. doi:10.1016/j.ymgmr.2020.100703. https://pubmed.ncbi.nlm.nih.gov/33489760/
3. Ma, Rui, Ye, Jing, Han, Jiaqi, Wang, Chaodong, Wang, Yuping. 2022. Case Report: A Novel Missense Mutation c.517G>C in the UMPS Gene Associated With Mild Orotic Aciduria. In Frontiers in neurology, 13, 819116. doi:10.3389/fneur.2022.819116. https://pubmed.ncbi.nlm.nih.gov/35356460/
4. Wortmann, Saskia B, Chen, Margaret A, Colombo, Roberto, Wevers, Ron A, Tiller, George E. 2017. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. In Journal of inherited metabolic disease, 40, 423-431. doi:10.1007/s10545-017-0015-9. https://pubmed.ncbi.nlm.nih.gov/28205048/
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