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Symbol Name ID |
Hps3
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 MGI:2153839 |
| Darker colors indicate more annotations |
| Human Phenotypes | Astigmatism |
Cataract |
Iris hypopigmentation |
Ocular albinism |
Abnormal optic nerve morphology |
Abnormality of visual evoked potentials |
Strabismus |
Esotropia |
Nystagmus |
Congenital nystagmus |
Horizontal nystagmus |
Myopia |
Photophobia |
Visual impairment |
Reduced visual acuity |
Amblyopia |
| Disease(s) Associated with HPS3 | ||||||||||||||||
| Hermansky-Pudlak syndrome | ||||||||||||||||
| Hermansky-Pudlak syndrome 3 |
| Mouse Phenotypes | abnormal eye pigmentation |
abnormal choroid pigmentation |
abnormal iris pigmentation |
abnormal retina pigmentation |
absent eye pigmentation |
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| Availability | Mouse Genotype | |||||
| Hps3coa-7J/Hps3coa-7J | ||||||
| Hps3coa/Hps3coa | ||||||
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 04/23/2024 MGI 6.23 |
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