| Primary Identifier | MGI:1927136 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 56297 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTP binding activity; NAD+-protein ADP-ribosyltransferase activity; and phospholipid binding activity. Involved in fat cell differentiation and protein localization to non-motile cilium. Acts upstream of or within several processes, including protein transport from ciliary membrane to plasma membrane; regulation of smoothened signaling pathway; and retina layer formation. Located in cytosol and membrane. Is expressed in several structures, including central nervous system; eye; forelimb bud; genitourinary system; and node. Used to study Bardet-Biedl syndrome 3. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; and retinitis pigmentosa 55. Orthologous to human ARL6 (ARF like GTPase 6). PHENOTYPE: Mice homozygous for a null allele exhibit retinal degeneration, male sterility due to absence of sperm flagella, increased body fat but no overt obesity, hydrocephalus, wide cranial sutures and a domed cranium. On a congenic background, homozygotes show neonatal lethality, congenital heart defects, cleft lip/palate, mid-facial hypoplasia, abnormal sphenoidal bones and premaxillary bones, a solitary central upper incisor, and defects in the development of cranial base midline structures. [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
