C57BL/6JCya-Mrm2em1flox/Cya
Common Name:
Mrm2-flox
Product ID:
S-CKO-18525
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Mrm2-flox
Strain ID
CKOCMP-68017-Mrm2-B6J-VB
Gene Name
Product ID
S-CKO-18525
Gene Alias
2310037B18Rik; Ftsj2
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-Mrm2em1flox/Cya mice (Catalog S-CKO-18525) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000031536
NCBI RefSeq
NM_026510.1
Target Region
Exon 3
Size of Effective Region
~2.6 kb
Detailed Document
Overview of Gene Research
Mrm2, also known as RRMJ2 and encoded by FTSJ2, is a mitochondrial methyltransferase. It is involved in the modification of nucleotides in the 16S rRNA A-loop, an essential part of the peptidyl transferase center, and is crucial for the biogenesis and function of the large subunit of the mitochondrial ribosome [2]. Defects in Mrm2 can disrupt mitochondrial translation, which is essential for oxidative phosphorylation [2]. Yeast models have been valuable in studying Mrm2-related functions and mutations [4,5].
In human studies, variants in Mrm2 have been associated with various disorders. In two families, DYAF11 and M, with dystonic or involuntary movement disorders, specific Mrm2 variants were identified. In Family DYAF11, a donor splice-site variant c.8 + 1G>T led to an aberrant alternative acceptor splice-site usage in a subset of transcripts, causing a frameshift. In Family M, a missense variant c.242C>T (p.(Ala81Val)) affected a conserved amino acid [1]. Additionally, a 7-year-old boy with a MELAS-like syndrome was found to have a damaging mutation c.567G>A (p.Gly189Arg) in Mrm2 [3]. Knockout yeast models for the orthologous gene showed respiration defects and reduced 2'-O-methyl modification at the equivalent position in yeast mitochondrial 21S rRNA [3].
In conclusion, Mrm2 is essential for mitochondrial ribosome biogenesis and function through its role in 16S rRNA modification. Studies on Mrm2, especially using yeast models as a research model, have revealed its association with complex dystonic syndromes and MELAS-like phenotypes, contributing to our understanding of the molecular mechanisms underlying these diseases.
References:
1. Shafique, Anum, Arif, Beenish, Chu, Mary Lynn, Lohmann, Katja, Naz, Sadaf. 2022. MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity. In Journal of medical genetics, 60, 352-358. doi:10.1136/jmg-2022-108521. https://pubmed.ncbi.nlm.nih.gov/36002240/
2. Rorbach, Joanna, Boesch, Pierre, Gammage, Payam A, Perocchi, Fabiana, Minczuk, Michal. 2014. MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome. In Molecular biology of the cell, 25, 2542-55. doi:10.1091/mbc.E14-01-0014. https://pubmed.ncbi.nlm.nih.gov/25009282/
3. Garone, Caterina, D'Souza, Aaron R, Dallabona, Cristina, Ferrero, Ileana, Minczuk, Michal. . Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. In Human molecular genetics, 26, 4257-4266. doi:10.1093/hmg/ddx314. https://pubmed.ncbi.nlm.nih.gov/28973171/
4. Pintard, Lionel, Bujnicki, Janusz M, Lapeyre, Bruno, Bonnerot, Claire. . MRM2 encodes a novel yeast mitochondrial 21S rRNA methyltransferase. In The EMBO journal, 21, 1139-47. doi:. https://pubmed.ncbi.nlm.nih.gov/11867542/
5. Gilea, Alexandru Ionut, Ceccatelli Berti, Camilla, Magistrati, Martina, Baruffini, Enrico, Dallabona, Cristina. 2021. Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability. In Genes, 12, . doi:10.3390/genes12121866. https://pubmed.ncbi.nlm.nih.gov/34946817/
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