| Primary Identifier | MGI:1928898 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 59025 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable deubiquitinase activity; endopeptidase inhibitor activity; and proteasome binding activity. Acts upstream of or within chemical synaptic transmission. Located in synapse. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and respiratory system. Orthologous to human USP14 (ubiquitin specific peptidase 14). PHENOTYPE: Homozygotes for a hypomorphic mutation develop severe tremors by 3 weeks of age, followed by hindlimb paralysis and premature death. An underdeveloped corpus callosum, hippocampus, dentate gyrus and forebrain structures, and notable defects in synaptic transmission in both the CNS and PNS are seen. [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
