C57BL/6JCya-Mtmr2em1flox/Cya
Common Name:
Mtmr2-flox
Product ID:
S-CKO-17790
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Mtmr2-flox
Strain ID
CKOCMP-77116-Mtmr2-B6J-VB
Gene Name
Product ID
S-CKO-17790
Gene Alias
6030445P13Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
9
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Mtmr2em1flox/Cya mice (Catalog S-CKO-17790) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000034396
NCBI RefSeq
NM_023858
Target Region
Exon 4~5
Size of Effective Region
~1.1 kb
Detailed Document
Overview of Gene Research
Mtmr2, short for myotubularin-related protein 2, is a ubiquitously expressed phosphatase. Its preferred substrate is phosphatidylinositol (3,5)-biphosphate, a regulator of membrane homeostasis and vesicle transport. It is involved in pathways related to cell signaling and is associated with various biological processes, with its study often aided by genetic models such as gene knockout mouse models [1,2].
Mutations in Mtmr2 cause autosomal recessive Charcot-Marie-Tooth (CMT) type 4B1, a demyelinating neuropathy. Mtmr2-null mice develop progressive neuropathy characterized by myelin outfolding and recurrent loops at paranodal myelin, and also show depletion of spermatids and spermatocytes leading to azoospermia. Disrupting Mtmr2 in Schwann cells can reproduce the myelin abnormalities. Additionally, Mtmr2 may regulate AKT signalling, as overexpression of Mtmr2 prevents the degradation of the epidermal growth factor receptor (EGFR) and leads to sustained Akt activation [1,2].
In conclusion, Mtmr2 is crucial for maintaining normal function in the peripheral nervous system and spermatogenesis. The Mtmr2-null mouse model has been instrumental in revealing its role in CMT4B1-like neuropathy and associated pathologies, enhancing our understanding of the underlying mechanisms and potentially guiding future therapeutic strategies for related diseases.
References:
1. Bolino, Alessandra, Bolis, Annalisa, Previtali, Stefano Carlo, Quattrini, Angelo, Wrabetz, Lawrence. . Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. In The Journal of cell biology, 167, 711-21. doi:. https://pubmed.ncbi.nlm.nih.gov/15557122/
2. Berger, Philipp, Tersar, Kristian, Ballmer-Hofer, Kurt, Suter, Ueli. . The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling. In Journal of cellular and molecular medicine, 15, 307-15. doi:10.1111/j.1582-4934.2009.00967.x. https://pubmed.ncbi.nlm.nih.gov/19912440/
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