| Primary Identifier | MGI:1099452 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 17772 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable intermediate filament binding activity; phosphatase activity; and phosphatidylinositol binding activity. Involved in mitochondrion distribution 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). 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] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
