| Primary Identifier | MGI:1921932 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 74682 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Involved in cilium assembly. Acts upstream of or within cellular response to leukemia inhibitory factor. Located in axoneme; centrosome; and ciliary basal body. Part of intraciliary transport particle A. Is expressed in several structures, including choroid plexus; future forebrain; limb mesenchyme; lobar bronchus epithelium; and sensory organ. Used to study short-rib thoracic dysplasia 7 with or without polydactyly. Human ortholog(s) of this gene implicated in Ellis-Van Creveld syndrome; cranioectodermal dysplasia 2; and short-rib thoracic dysplasia 7 with or without polydactyly. Orthologous to human WDR35 (WD repeat domain 35). PHENOTYPE: Mice homozygous for an ENU induced mutation exhibit mid-gestation lethality, heart development defects, turning defects, polysyndactyly, hypoplastic lungs, tracheoesophageal fistula, herniated diaphragm and absent embryonic cilia. [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
