Symbol Name ID |
Bloc1s5
biogenesis of lysosomal organelles complex-1, subunit 5, muted MGI:2178598 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Abnormal bleeding |
Epistaxis |
Gastrointestinal hemorrhage |
Bruising susceptibility |
Neutropenia |
Abnormality of thrombocytes |
Disease(s) Associated with BLOC1S5 | ||||||
Hermansky-Pudlak syndrome |
Mouse Phenotypes | hematopoietic system phenotype |
decreased platelet ATP level |
abnormal platelet dense granule morphology |
decreased platelet dense granule number |
decreased platelet serotonin level |
increased monocyte cell number |
abnormal platelet physiology |
decreased platelet aggregation |
abnormal platelet dense granule physiology |
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Availability | Mouse Genotype | |||||||||
Bloc1s5mu/Bloc1s5mu | * | |||||||||
Bloc1s5em1(IMPC)Tcp/Bloc1s5+ |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 06/12/2024 MGI 6.13 |
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