| Primary Identifier | MGI:1924487 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 231214 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in cilium assembly; protein localization to ciliary transition zone; and smoothened signaling pathway. Acts upstream of or within several processes, including cilium assembly; embryonic brain development; and neural tube closure. Located in ciliary transition zone. Part of MKS complex. Is expressed in embryo and secondary heart field. Used to study Meckel syndrome and visceral heterotaxy. Human ortholog(s) of this gene implicated in Joubert syndrome 9; Meckel syndrome 6; intellectual disability; and retinitis pigmentosa. Orthologous to human CC2D2A (coiled-coil and C2 domain containing 2A). PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality with multiorgan defects related to cilia biogenesis. Homozygotes for a gene trap allele show randomized body axis, holoprosencephaly, and microphthalmia. Homozygotes for an ENU-induced allele show heterotaxia, congenital heart anomalies, kidney and eye defects, polydactyly, and cleft palate. [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
