| Primary Identifier | MGI:2443047 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 319953 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables tubulin-glutamic acid ligase activity. Acts upstream of or within several processes, including cerebellar Purkinje cell differentiation; mucociliary clearance; and protein polyglutamylation. Located in ciliary basal body. Is expressed in 1-cell stage embryo; 8-cell stage embryo; blastocyst; and cortical plate. Used to study primary ciliary dyskinesia. Orthologous to human TTLL1 (TTL family tubulin polyglutamylase complex subunit L1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit short sperm flagella, abnormal tracheal cilia morphology and function, abnormal mucociliary clearance, and rhinosinusitis with coughing and sneezing-like noises. Brain lysates show a significant reduction in polyglutamylated alpha-tubulins. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
