C57BL/6JCya-Mepceem1flox/Cya
Common Name:
Mepce-flox
Product ID:
S-CKO-18842
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Mepce-flox
Strain ID
CKOCMP-231803-Mepce-B6J-VB
Gene Name
Product ID
S-CKO-18842
Gene Alias
Bcdin3; D5Wsu46e
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
5
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Mepceem1flox/Cya mice (Catalog S-CKO-18842) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000031740
NCBI RefSeq
NM_144913
Target Region
Exon 1~4
Size of Effective Region
~3.7 kb
Detailed Document
Overview of Gene Research
MePCE, short for methylphosphate capping enzyme, is a crucial protein involved in multiple biological processes. It monomethylates the gamma phosphate at the 5' end of the 7SK noncoding RNA, protecting 7SK from degradation [1,2]. 7SK serves as a scaffold for assembling a snRNP complex that inhibits transcription by sequestering the positive elongation factor P-TEFb, thus playing a significant role in regulating RNA polymerase II (RNAP II) transcription [1,2].
In Drosophila, the Bin3 ortholog of MePCE has been studied. Bin3 mutant females showed reduced egg-laying rates and neuromuscular defects, which could be rescued by reducing P-TEFb activity, suggesting that MePCE promotes fecundity and neuromuscular function by repressing P-TEFb [1,2]. In human cells, a de novo MEPCE nonsense variant in a patient with global developmental delay and seizures led to decreased MEPCE, downregulation of LARP7 and 7SK snRNA, upregulation of HEXIM1, enhanced activation of P-TEFb, and increased expression of specific RNAP II-sensitive genes. Ectopic MEPCE protein expression rescued these changes [3].
In conclusion, MePCE is essential for 7SK RNA capping and stability, playing a key role in regulating P-TEFb-dependent transcription. Studies in Drosophila and human patient cells with MePCE-related mutations have revealed its importance in development and disease-associated processes such as neurodevelopmental disorders [1,2,3].
References:
1. Palumbo, Ryan J, Hanes, Steven D. 2023. Catalytic activity of the Bin3/MEPCE methyltransferase domain is dispensable for 7SK snRNP function in Drosophila melanogaster. In bioRxiv : the preprint server for biology, , . doi:10.1101/2023.06.01.543302. https://pubmed.ncbi.nlm.nih.gov/37333392/
2. Palumbo, Ryan J, Yang, Yuan, Feigon, Juli, Hanes, Steven D. . Catalytic activity of the Bin3/MePCE methyltransferase domain is dispensable for 7SK snRNP function in Drosophila melanogaster. In Genetics, 226, . doi:10.1093/genetics/iyad203. https://pubmed.ncbi.nlm.nih.gov/37982586/
3. Schneeberger, Pauline E, Bierhals, Tatjana, Neu, Axel, Hempel, Maja, Kutsche, Kerstin. 2019. de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation. In Scientific reports, 9, 12516. doi:10.1038/s41598-019-49032-0. https://pubmed.ncbi.nlm.nih.gov/31467394/
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