Gene

Mtm1

Species
Mus musculus
Symbol
Mtm1
Name
X-linked myotubular myopathy gene 1
Synonyms
  • AF073996
  • expressed sequence AF073996
Biotype
protein coding gene
Automated Description
Predicted to enable intermediate filament binding activity; phosphatase activity; and phosphatidylinositol binding activity. Involved in mitochondrion distribution; mitochondrion organization; and muscle cell cellular homeostasis. Acts upstream of or within negative regulation of catabolic process; negative regulation of intracellular signal transduction; and positive regulation of skeletal muscle tissue growth. Located in I band. Is expressed in embryo and trunk unsegmented mesenchyme. Used to study centronuclear myopathy. Human ortholog(s) of this gene implicated in congenital structural myopathy. Orthologous to human MTM1 (myotubularin 1).
MGI Description
PHENOTYPE: Hemizygotes for targeted null mutations develop a generalized, progressive myopathy beginning around 1 month and leading to death at 6-14 weeks of age. Mutant mice show amyotrophy with accumulation of central nuclei in skeletal muscle fibers. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10807
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCm39
Viewer Help
70.26M70.27M70.28M70.29M70.30M70.31M70.32M70.33M70.34M70.35M

Sequence Details

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Expression

Primary Sources
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions