| Primary Identifier | MGI:1329045 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 22158 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including enzyme binding activity; intraciliary transport particle A binding activity; and phosphatidylinositol binding activity. Involved in protein localization to cilium. Acts upstream of or within several processes, including nervous system development; regulation of signal transduction; and skeletal system development. Located in axoneme. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; eye; and genitourinary system. Used to study polycystic kidney disease. Orthologous to human TULP3 (TUB like protein 3). PHENOTYPE: Homozygous mutant mice exhibit failed neural tube closure followed by neuroepithelial apoptosis and ultimately embryonic death around E14.5. Heterozygotes are largely phenotypically normal, however some exhibit neuroepithelial apoptosis and die as embryos. [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
