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C57BL/6JCya-Mmutem1flox/Cya
Common Name:
Mmut-flox
Product ID:
S-CKO-03838
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Mmut-flox
Strain ID
CKOCMP-17850-Mmut-B6J-VA
Gene Name
Mmut
Product ID
S-CKO-03838
Gene Alias
D230010K02Rik; Mcm; Mut
Background
C57BL/6JCya
NCBI ID
17850
Modification
Conditional knockout
Chromosome
17
Phenotype
MGI:97239
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-Mmutem1flox/Cya mice (Catalog S-CKO-03838) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000169611
NCBI RefSeq
NM_008650
Target Region
Exon 3
Size of Effective Region
~1.2 kb
Detailed Document
Click here to download >>
Overview of Gene Research
MMUT, encoding methyl-malonyl coenzyme A mutase, is crucial in the metabolism of propionate. It catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, which is an important step in the catabolism of several amino acids, odd-chain fatty acids, and cholesterol. This process is part of the mitochondrial metabolism pathway and is essential for normal cellular function [3,4,6].

In methylmalonic acidemia (MMA), a disease associated with MMUT, different mutations in the MMUT gene have varying impacts. For instance, mutations like c.1663G>A, c.2080C>T, etc., are associated with complete responsiveness to vitamin B12 treatment in MMA patients, while mutations such as c.1741C>T, c.1630_1631GG>TA are related to partial responsiveness [1]. The c.1663G>A (p.A555T) mutation is relatively rare and in Chinese patients, those with this mutation showed later onset, milder clinical phenotypes, better vitamin B12 responsiveness, and better prognosis compared to those with other MMUT mutations [2]. A novel splice site variant c.2125-2A>G in the MMUT gene was found to cause a mild MMA phenotype, as it partially disrupts normal splicing but still allows for the production of a minor amount of full-length transcript [5]. Cellular models of MMUT-KO (MUTKO) clones, like immortalized fibroblast (hTERT BJ5ta) MUTKO clones, have shown a mild mitochondrial impairment and specific growth phenotypes under certain conditions, such as lower extracellular glutamine concentrations. This indicates that cells may compensate for the loss of MMUT function through increased anaplerosis via glutamine or by diverting flux away from MMUT through the secondary propionyl-CoA oxidation pathway [6].

In conclusion, MMUT is essential for normal mitochondrial metabolism, specifically in the propionate metabolism pathway. Research on MMUT, especially through cellular models and patient-based genetic studies, has significantly enhanced our understanding of methylmalonic acidemia. The identification of various MMUT mutations and their associated phenotypes, along with the insights from cellular KO models, provides valuable information for potential therapeutic strategies in treating MMA.

References:
1. Yu, Yue, Shuai, Ruixue, Liang, Lili, Gu, Xuefan, Han, Lianshu. 2021. Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study. In Molecular genetics & genomic medicine, 9, e1822. doi:10.1002/mgg3.1822. https://pubmed.ncbi.nlm.nih.gov/34668645/
2. Liang, Lili, Shuai, Ruixue, Yu, Yue, Gu, Xuefan, Han, Lianshu. 2021. A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients. In Orphanet journal of rare diseases, 16, 22. doi:10.1186/s13023-020-01632-0. https://pubmed.ncbi.nlm.nih.gov/33413471/
3. Forny, Patrick, Bonilla, Ximena, Lamparter, David, Baumgartner, Matthias R, Froese, D Sean. 2023. Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency. In Nature metabolism, 5, 80-95. doi:10.1038/s42255-022-00720-8. https://pubmed.ncbi.nlm.nih.gov/36717752/
4. Manoli, Irini, Gebremariam, Abigael, McCoy, Samantha, Dionisi-Vici, Carlo, Venditti, Charles P. 2023. Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia. In Journal of inherited metabolic disease, 46, 554-572. doi:10.1002/jimd.12636. https://pubmed.ncbi.nlm.nih.gov/37243446/
5. Zhang, Xinjie, Xu, Xiaowei, Shu, Jianbo, Meng, Yingtao, Cai, Chunquan. 2024. A novel MMUT splicing variant causing mild methylmalonic acidemia phenotype. In Heliyon, 10, e26912. doi:10.1016/j.heliyon.2024.e26912. https://pubmed.ncbi.nlm.nih.gov/38455531/
6. Ramon, Charlotte, Traversi, Florian, Bürer, Céline, Froese, D Sean, Stelling, Jörg. 2022. Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria. In Journal of inherited metabolic disease, 46, 421-435. doi:10.1002/jimd.12575. https://pubmed.ncbi.nlm.nih.gov/36371683/
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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