Primary Identifier | MGI:1914840 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 67590 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in cilium assembly. Predicted to be located in nucleus. Is expressed in several structures, including brain and olfactory epithelium. Human ortholog(s) of this gene implicated in Joubert syndrome 18 and orofaciodigital syndrome IV. Orthologous to human TCTN3 (tectonic family member 3). PHENOTYPE: Homozygous nulls die between E14.5 and E16.5, show holoprosencephaly, polydactyly, randomized heart looping, absent floor plate, and reduced cilia number. [provided by MGI curators] |