| Primary Identifier | MGI:3584243 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 380718 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Involved in branching morphogenesis of an epithelial tube and cilium assembly. Acts upstream of or within several processes, including chordate embryonic development; plasma membrane bounded cell projection organization; and regulation of signal transduction. Located in ciliary transition zone; membrane; and microtubule organizing center. Part of MKS complex. Is expressed in several structures, including brain; esophagus epithelium; lung; metanephros; and secondary heart field. Used to study Meckel syndrome; atrioventricular septal defect; and tetralogy of Fallot. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 13; Joubert syndrome 28; and Meckel syndrome 1. Orthologous to human MKS1 (MKS transition zone complex subunit 1). PHENOTYPE: Mice homozygous for an ENU-induced or targeted allele exhibit polydactyly, heterotaxia, skeletal defects, and kidney cysts along with abnormal lung, kidney, liver, and heart morphology. [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
