| Primary Identifier | MGI:87971 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 52906 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity. Involved in several processes, including camera-type eye photoreceptor cell differentiation; positive regulation of cellular component organization; and positive regulation of polarized epithelial cell differentiation. Acts upstream of or within several processes, including non-motile cilium assembly; photoreceptor cell outer segment organization; and retina development in camera-type eye. Located in microtubule organizing center and photoreceptor cell cilium. Part of MKS complex. Is expressed in several structures, including brain; ganglia; gonad; olfactory epithelium; and retina. Used to study Joubert syndrome 3 and nephronophthisis. Human ortholog(s) of this gene implicated in Joubert syndrome 3; Joubert syndrome 4; and autism spectrum disorder. Orthologous to human AHI1 (Abelson helper integration site 1). PHENOTYPE: Mouse embryonic fibroblasts homozygous for one knock-out allele exhibit reduced and abnormal cilia. Mice homozygous for another knock-out allele exhibit premature death and abnormal kidney morphology and physiology. [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
