Primary Identifier | MGI:2138271 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 98376 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within hair follicle morphogenesis; non-motile cilium assembly; and positive regulation of smoothened signaling pathway. Located in cytoplasm. Is expressed in brain. Human ortholog(s) of this gene implicated in geroderma osteodysplasticum. Orthologous to human GORAB (golgin, RAB6 interacting). PHENOTYPE: Mice homozygous for a null gene trap allele exhibit hunched posture, craniofacial abnormalities, neonatal lethality, respiratory distress, skin edema, decreased hair follicles, fewer dermal condensates and papillae, and impaired formation of primary cilia on dermal condensate cells. [provided by MGI curators] |