Primary Identifier | MGI:1915396 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 68146 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable GTP binding activity and GTPase activity. Involved in nervous system development; non-motile cilium assembly; and smoothened signaling pathway. Acts upstream of or within dorsal/ventral pattern formation; heart looping; and left/right axis specification. Located in axoneme; ciliary membrane; and motile cilium. Is expressed in several structures, including chordamesoderm; embryo mesenchyme; gonad; neural ectoderm; and node. Human ortholog(s) of this gene implicated in Joubert syndrome 8. Orthologous to human ARL13B (ADP ribosylation factor like GTPase 13B). PHENOTYPE: Mice homozygous for an ENU-induced mutation die at E13-E14 exhibiting left-right randomization and absence of the floor plate in the caudal spinal cord. [provided by MGI curators] |