| Primary Identifier | MGI:1929230 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 117197 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in anterograde synaptic vesicle transport. Acts upstream of or within melanosome organization; neuromuscular process controlling balance; and platelet aggregation. Located in cytoplasm. Part of BLOC-1 complex. Used to study Hermansky-Pudlak syndrome. Orthologous to human BLOC1S4 (biogenesis of lysosomal organelles complex 1 subunit 4). PHENOTYPE: Homozygous mutant animals exhibit a very dilute coat and eye color due to a reduced number of melanosomes. 75% of homozygous mutant animals exhibit some form of posture or balance abnormality, with variable severity. Platelet dense bodies are markedly deficient leading to prolonged bleeding. [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
