| Primary Identifier | MGI:2682064 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 67661 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in cilium assembly and smoothened signaling pathway. Acts upstream of or within several processes, including embryonic morphogenesis; regionalization; and regulation of smoothened signaling pathway. Located in sperm cytoplasmic droplet; sperm midpiece; and sperm principal piece. Part of intraciliary transport particle B. Is expressed in several structures, including brain; endocrine gland; genitourinary system; heart; and respiratory system. Used to study VACTERL association; atrioventricular septal defect; and retinal degeneration. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 20; retinitis pigmentosa 71; and short-rib thoracic dysplasia 10 with or without polydactyly. Orthologous to human IFT172 (intraflagellar transport 172). PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality during organogenesis, neural tube defects, and developmental patterning abnormalities. [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
