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Symbol Name ID |
Hps4
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 MGI:2177742 |
| Darker colors indicate more annotations |
| Human Phenotypes | Astigmatism |
Cataract |
Iris hypopigmentation |
Ocular albinism |
Abnormal optic nerve morphology |
Hypoplasia of the fovea |
Abnormality of visual evoked potentials |
Strabismus |
Nystagmus |
Horizontal nystagmus |
Myopia |
Photophobia |
Visual impairment |
Reduced visual acuity |
Amblyopia |
| Disease(s) Associated with HPS4 | |||||||||||||||
| Hermansky-Pudlak syndrome | |||||||||||||||
| Hermansky-Pudlak syndrome 4 |
| Mouse Phenotypes | abnormal eye pigmentation |
abnormal choroid pigmentation |
abnormal retina pigment epithelium morphology |
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| Availability | Mouse Genotype | |||
| Hps4le/Hps4le | ||||
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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