| Primary Identifier | MGI:1920563 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 244585 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable thromboxane A2 receptor binding activity. Acts upstream of or within several processes, including embryonic limb morphogenesis; nervous system development; and non-motile cilium assembly. Located in ciliary basal body; ciliary transition zone; and cytoplasm. Is expressed in organ of Corti; ovary; and testis. Used to study Joubert syndrome 7 and Meckel syndrome. Human ortholog(s) of this gene implicated in several diseases, including Joubert syndrome 7; Meckel syndrome 5; anencephaly; retinitis pigmentosa 3; and vascular dementia. Orthologous to human RPGRIP1L (RPGRIP1 like). PHENOTYPE: Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion. [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
