C57BL/6JCya-Mtmr1em1flox/Cya
Common Name:
Mtmr1-flox
Product ID:
S-CKO-11592
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Mtmr1-flox
Strain ID
CKOCMP-53332-Mtmr1-B6J-VA
Gene Name
Product ID
S-CKO-11592
Gene Alias
-
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
X
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Mtmr1em1flox/Cya mice (Catalog S-CKO-11592) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000015358
NCBI RefSeq
NM_016985
Target Region
Exon 4~5
Size of Effective Region
~1.7 kb
Detailed Document
Overview of Gene Research
Mtmr1, the myotubularin-related 1 gene, belongs to a highly conserved family of eukaryotic phosphatases [3]. It encodes a phosphatase that is part of the tyrosine/dual-specificity phosphatase superfamily and uses phosphatidylinositol 3-monophosphate (PI(3)P) and/or phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) as substrates [2]. These phosphatidylinositol phosphates are involved in cellular regulation and membrane trafficking, suggesting Mtmr1's importance in these processes [5].
In myotonic dystrophy type 1 (DM1) and type 2 (DM2), an aberrant splicing of Mtmr1 was detected in muscle biopsies, along with signs of altered myofiber maturation [1]. In DM1, this was also associated with a significant amount of neural cell adhesion molecule (NCAM)-positive myofibers, and the alterations correlated with DNA repeat expansion size [1]. In DM1 muscle cells, there was a striking reduction in the level of the muscle-specific Mtmr1 isoform and the appearance of an abnormal transcript, indicating its role in muscle formation and a potential target for abnormal mRNA splicing in myotonic dystrophy [3]. Additionally, in a case of hepatic leiomyosarcoma, somatic mutations in Mtmr1 were found, suggesting a possible role in this cancer pathogenesis [4].
In conclusion, Mtmr1 is important for normal muscle formation as its abnormal splicing is associated with myotonic dystrophy. Its potential role in cancer, as indicated by the hepatic leiomyosarcoma case, also shows its significance in disease processes. The study of Mtmr1 in these disease models helps understand its biological functions and the underlying disease mechanisms.
References:
1. Santoro, Massimo, Modoni, Anna, Masciullo, Marcella, Tonali, Pietro Attilio, Silvestri, Gabriella. 2010. Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2). In Experimental and molecular pathology, 89, 158-68. doi:10.1016/j.yexmp.2010.05.007. https://pubmed.ncbi.nlm.nih.gov/20685272/
2. Bong, Seoung Min, Son, Kka-bi, Yang, Seung-Won, Kim, Young Jun, Lee, Byung Il. 2016. Crystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate Specificity. In PloS one, 11, e0152611. doi:10.1371/journal.pone.0152611. https://pubmed.ncbi.nlm.nih.gov/27018598/
3. Buj-Bello, Anna, Furling, Denis, Tronchère, Hélène, Butler-Browne, Gillian S, Mandel, Jean-Louis. . Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. In Human molecular genetics, 11, 2297-307. doi:. https://pubmed.ncbi.nlm.nih.gov/12217958/
4. Numata, Yuto, Akutsu, Noriyuki, Idogawa, Masashi, Sasaki, Shigeru, Nakase, Hiroshi. 2024. Genomic analysis of an aggressive hepatic leiomyosarcoma case following treatment for hepatocellular carcinoma. In Hepatology research : the official journal of the Japan Society of Hepatology, 54, 859-865. doi:10.1111/hepr.14034. https://pubmed.ncbi.nlm.nih.gov/38459823/
5. Robinson, Fred L, Dixon, Jack E. 2006. Myotubularin phosphatases: policing 3-phosphoinositides. In Trends in cell biology, 16, 403-12. doi:. https://pubmed.ncbi.nlm.nih.gov/16828287/
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