| Primary Identifier | MGI:1916075 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 97287 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity and phosphatidylinositol-3-phosphate phosphatase activity. Predicted to be located in perinuclear region of cytoplasm and ruffle. Is expressed in cerebral cortex and retina. Human ortholog(s) of this gene implicated in centronuclear myopathy 1. Orthologous to human MTMR14 (myotubularin related protein 14). PHENOTYPE: Homozygous null mice develop a muscle disorder due to impaired Ca2+ homeostasis. Males are sub-fertile with defects in spermatogenesis, sperm structure and motility, impaired acrosome reaction, decreased muscle force of vas deferens, and intracellular Ca2+ imbalance in the testes and epididymis. [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
