Primary Identifier | MGI:2387643 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 232987 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables gamma-tubulin binding activity. Involved in cilium assembly. Located in membrane. Part of MKS complex. Human ortholog(s) of this gene implicated in Joubert syndrome. Orthologous to human B9D2 (B9 domain containing 2). PHENOTYPE: Mice carrying a targeted mutation of this gene exhibit preweaning lethality, hydrops fetalis, and abnormalities in craniofacial, limb, and eye development. [provided by MGI curators] |