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C57BL/6JCya-Mtmr1em1/Cya
Common Name:
Mtmr1-KO
Product ID:
S-KO-19511
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Mtmr1-KO
Strain ID
KOCMP-53332-Mtmr1-B6J-VB
Gene Name
Mtmr1
Product ID
S-KO-19511
Gene Alias
-
Background
C57BL/6JCya
NCBI ID
53332
Modification
Conventional knockout
Chromosome
X
Phenotype
MGI:1858271
Document
Click here to download >>
Application
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More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Mtmr1em1/Cya mice (Catalog S-KO-19511) 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
Click here to download >>
Overview of Gene Research
Mtmr1, the myotubularin-related 1 gene, belongs to a highly conserved family of eukaryotic phosphatases [4]. It encodes a phosphatase that belongs to the tyrosine/dual-specificity phosphatase superfamily and has been shown to use phosphatidylinositol 3-monophosphate (PI(3)P) and/or phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) as substrates [3]. The gene may be involved in pathways related to membrane trafficking, as myotubularin family PI 3-phosphatases regulate traffic within the endosomal-lysosomal pathway [6].

In myotonic dystrophy type 1 (DM1) and type 2 (DM2), an aberrant splicing of MTMR1 was detected, along with signs of altered myofiber maturation [2]. In DM1 muscle cells, there was a striking reduction in the level of the muscle-specific isoform and the appearance of an abnormal MTMR1 transcript [4]. Comparing isogenic CRISPR-Cas9-corrected versus non-corrected DM1 cardiomyocytes, a difference in the splicing pattern of MTMR1 was apparent, which is associated with cardiac function [1]. Also, in a case of hepatic leiomyosarcoma, a somatic mutation in MTMR1 was found, potentially indicating a transition from sarcomatoid hepatocarcinoma [5].

In conclusion, Mtmr1 is a key gene encoding a phosphatase with specific substrate preferences. Its abnormal splicing and expression are associated with myotonic dystrophy, influencing muscle fiber maturation. Additionally, its mutation may be related to hepatic leiomyosarcoma. Research on Mtmr1, especially through techniques like CRISPR-Cas9 in relevant cell models, helps understand its role in disease-associated biological processes such as muscle development and cancer-related genetic changes.

References:
1. Dastidar, Sumitava, Majumdar, Debanjana, Tipanee, Jaitip, Chuah, Marinee K, VandenDriessche, Thierry. 2021. Comprehensive transcriptome-wide analysis of spliceopathy correction of myotonic dystrophy using CRISPR-Cas9 in iPSCs-derived cardiomyocytes. In Molecular therapy : the journal of the American Society of Gene Therapy, 30, 75-91. doi:10.1016/j.ymthe.2021.08.004. https://pubmed.ncbi.nlm.nih.gov/34371182/
2. 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/
3. 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/
4. 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/
5. 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/
6. 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
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