| Primary Identifier | MGI:1914311 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 66573 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables BBSome binding activity. Involved in several processes, including cilium assembly; positive regulation of cilium assembly; and positive regulation of protein localization to cilium. Acts upstream of or within several processes, including maintenance of protein location; protein localization to cilium; and smoothened signaling pathway. Located in several cellular components, including ciliary base; microtubule organizing center; and nuclear speck. Part of ciliary transition fiber. Is expressed in several structures, including body cavity or lining; early conceptus; genitourinary system; nervous system; and vertebral axis musculature. Used to study mitral valve prolapse and spermatogenic failure 47. Human ortholog(s) of this gene implicated in mitral valve prolapse and spermatogenic failure 47. Orthologous to human DZIP1 (DAZ interacting zinc finger protein 1). PHENOTYPE: Mice homozygous for a targeted allele lacking exons 2 and 3 exhibit partial embryonic lethality around E9.5, decreased embryo size, underdevelopment of the neural tube and somite and lack of primary cilia on MEFs. [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
