Primary Identifier | MGI:2442827 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 544696 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within several processes, including camera-type eye development; non-motile cilium assembly; and regionalization. Predicted to be located in cilium and cytoplasm. Is expressed in embryo. Used to study Bardet-Biedl syndrome; Meckel syndrome; VACTERL association; and visceral heterotaxy. Orthologous to human TBC1D32 (TBC1 domain family member 32). PHENOTYPE: Mice homozygous for a gene trap allele or ENU induced mutation exhibit exencephaly and poor eye development. [provided by MGI curators] |