| 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 9.1.0) Predicted to contribute to protein carrier activity. 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
