| Primary Identifier | MGI:1201671 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 20975 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Predicted to be involved in inositol phosphate catabolic process; phosphatidylinositol dephosphorylation; and synaptic vesicle endocytosis. Predicted to act upstream of or within lipid metabolic process. Predicted to be located in axon terminus; cytoplasmic microtubule; and ruffle membrane. Predicted to be active in perinuclear region of cytoplasm and presynapse. Is expressed in several structures, including alimentary system; genitourinary system; nose; spleen; and submandibular gland primordium. Orthologous to human SYNJ2 (synaptojanin 2). PHENOTYPE: Homozygotes for an ENU-induced allele show progressive hearing loss and cochlear hair cell degeneration associated with fusion of stereocilia followed by total loss of hair bundles and cochlear ganglion degeneration. No vestibular dysfunction or other behavioral deficits are observed. [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
