| Primary Identifier | MGI:1923515 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 76265 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to be involved in tRNA-type intron splice site recognition and cleavage. Predicted to be located in nucleolus. Predicted to be part of tRNA-intron endonuclease complex. Is expressed in cerebellum; retina inner nuclear layer; and retina outer nuclear layer. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 2A; pontocerebellar hypoplasia type 4; and pontocerebellar hypoplasia type 5. Orthologous to human TSEN54 (tRNA splicing endonuclease subunit 54). PHENOTYPE: Homozygous knockout is early embryonic lethal. Mice homozygous for a knock-out allele show complete embryonic lethality prior to organogenesis. In vitro, embryos fail to hatch from the zona pellucida and die after 3 days in culture. [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
