Primary Identifier | MGI:1914160 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 66910 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in several processes, including embryonic digit morphogenesis; non-motile cilium assembly; and protein localization to ciliary transition zone. Acts upstream of or within several processes, including craniofacial suture morphogenesis; detection of nodal flow; and roof of mouth development. Located in ciliary transition zone. Is expressed in brain; nasal cavity epithelium; node; and pharynx. Human ortholog(s) of this gene implicated in Meckel syndrome 13 and orofaciodigital syndrome XVI. Orthologous to human TMEM107 (transmembrane protein 107). PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice homozygous for an ENU induced allele exhibit preaxial polydactyly, exencephaly, microphthalmia, cleft palate, craniofacial defects, short sternum, split sternum and absent floor plate. [provided by MGI curators] |