C57BL/6JCya-Mtm1em1/Cya
Common Name:
Mtm1-KO
Product ID:
S-KO-18307
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Mtm1-KO
Strain ID
KOCMP-17772-Mtm1-B6J-VA
Gene Name
Product ID
S-KO-18307
Gene Alias
Mtm; mKIAA4176
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
X
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Mtm1em1/Cya mice (Catalog S-KO-18307) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000171933
NCBI RefSeq
NM_001164190
Target Region
Exon 4
Size of Effective Region
~1.0 kb
Detailed Document
Overview of Gene Research
Mtm1, encoding myotubularin, is a dual-specificity phosphatase. It belongs to a large conserved gene family. Myotubularin acts as an endosomal phosphatase, dephosphorylating key second messenger lipids PI3P and PI3,5P2, which is crucial for lipid and membrane dynamics [3,4].
Mutations in Mtm1 cause X-linked myotubular myopathy (XLMTM), a severe congenital muscle disorder. In Bin1mck-/-mice, early systemic Mtm1 overexpression prevented the development of centronuclear myopathy (CNM) pathology, and late intramuscular Mtm1 expression partially reverted established phenotypes, highlighting its role in CNM-related muscle pathologies [1]. In a zebrafish model, loss-of-function mutations in mtm1 led to severe liver abnormalities including impaired bile flux, showing its importance in liver function [2].
In summary, Mtm1 is essential for normal muscle and liver function. Model-based research, especially the use of gene-modified mouse and zebrafish models, has revealed its critical role in muscle-related diseases like XLMTM and CNM, as well as in liver-associated cholestatic diseases. These findings contribute to understanding the underlying mechanisms of these diseases and potentially developing therapeutic strategies.
References:
1. Giraud, Quentin, Spiegelhalter, Coralie, Messaddeq, Nadia, Laporte, Jocelyn. . MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy. In Brain : a journal of neurology, 146, 4158-4173. doi:10.1093/brain/awad251. https://pubmed.ncbi.nlm.nih.gov/37490306/
2. Karolczak, Sophie, Deshwar, Ashish R, Aristegui, Evangelina, Yin, Chunyue, Dowling, James J. 2023. Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy. In The Journal of clinical investigation, 133, . doi:10.1172/JCI166275. https://pubmed.ncbi.nlm.nih.gov/37490339/
3. Laporte, J, Biancalana, V, Tanner, S M, Liechti-Gallati, S, Mandel, J L. . MTM1 mutations in X-linked myotubular myopathy. In Human mutation, 15, 393-409. doi:. https://pubmed.ncbi.nlm.nih.gov/10790201/
4. Lawlor, Michael W, Dowling, James J. . X-linked myotubular myopathy. In Neuromuscular disorders : NMD, 31, 1004-1012. doi:10.1016/j.nmd.2021.08.003. https://pubmed.ncbi.nlm.nih.gov/34736623/
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