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Symbol Name ID |
Ap3b1
adaptor-related protein complex 3, beta 1 subunit MGI:1333879 |
| Darker colors indicate more annotations |
| Human Phenotypes | Reduced natural killer cell activity |
Abnormal bleeding |
Epistaxis |
Gastrointestinal hemorrhage |
Prolonged bleeding time |
Bruising susceptibility |
Neutropenia |
Decreased CD4:CD8 ratio |
Reduced natural killer cell count |
Abnormality of thrombocytes |
Impaired ADP-induced platelet aggregation |
Thrombocytopenia |
Absent platelet dense granules |
Enlarged platelet dense granules |
Splenomegaly |
Hepatosplenomegaly |
| Disease(s) Associated with AP3B1 | ||||||||||||||||
| Hermansky-Pudlak syndrome | ||||||||||||||||
| Hermansky-Pudlak syndrome 2 |
| Mouse Phenotypes | decreased platelet ATP level |
decreased platelet ADP level |
decreased platelet aggregation |
abnormal platelet dense granule physiology |
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| Availability | Mouse Genotype | ||||
| Ap3b1pe-rim2/Ap3b1pe-rim2 | |||||
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 04/30/2024 MGI 6.23 |
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