| Primary Identifier | MGI:1927753 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 64436 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Acts upstream of or within several processes, including negative regulation of protein localization to cilium; phosphatidylinositol dephosphorylation; and response to inositol. Located in Golgi membrane; axoneme; and nucleus. Is expressed in several structures, including alimentary system; eye; genitourinary system; nervous system; and respiratory system. Human ortholog(s) of this gene implicated in Joubert syndrome and Joubert syndrome 1. Orthologous to human INPP5E (inositol polyphosphate-5-phosphatase E). PHENOTYPE: Mice homozygous for a null mutation display signs of ciliopathies including prenatal and perinatal lethality, polycystic kidneys, arrest of eye development, abnormalities in primary cilia, cerebral developmental defects, and skeletal defects. [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
