Primary Identifier | MGI:2141418 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 101100 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein-glycine ligase activity, initiating. Involved in flagellated sperm motility and protein polyglycylation. Acts upstream of or within cilium assembly. Located in axoneme; microtubule cytoskeleton; and sperm flagellum. Is expressed in midbrain ventricular layer; node; and pons ventricular layer. Orthologous to human TTLL3 (tubulin tyrosine ligase like 3). PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduced number of primary cilia in colon epithelia accompanied by an increased rate of cell division which is compensated by faster tissue turnover in the colon. Mice exhibit increased incidence of colon tumors by chemical induction. Retinal photoreceptor connecting cilia are also affected, resulting in progressive degeneration of the photoreceptors. [provided by MGI curators] |