| Primary Identifier | MGI:1920230 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 207425 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in several processes, including cilium assembly; heart development; and regulation of smoothened signaling pathway. Located in axoneme; ciliary basal body; and nucleus. Is expressed in several structures, including central nervous system; frontal bone primordium; metanephros; otic capsule; and submandibular gland primordium. Used to study Kallmann syndrome and ciliopathy. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder and hypogonadotropic hypogonadism 14 with or without anosmia. Orthologous to human WDR11 (WD repeat domain 11). PHENOTYPE: Nullizygous mice show mid-gestational and perinatal lethality and developmental anomalies associated with defective Hh signalling and ciliogenesis, including eye, skeletal, heart and craniofacial defects, holoprosencephaly, pituitary dysgenesis, delayed puberty, reproductive dysfunction and obesity. [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
