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Symbol Name ID |
Hps6
HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 MGI:2181763 |
| Darker colors indicate more annotations |
| Human Phenotypes | Astigmatism |
Cataract |
Iris hypopigmentation |
Ocular albinism |
Iris transillumination defect |
Abnormal optic nerve morphology |
Absent foveal reflex |
Macular hypoplasia |
Abnormality of visual evoked potentials |
Strabismus |
Nystagmus |
Horizontal nystagmus |
Rotary nystagmus |
Myopia |
Photophobia |
Visual impairment |
Reduced visual acuity |
Amblyopia |
| Disease(s) Associated with HPS6 | ||||||||||||||||||
| Hermansky-Pudlak syndrome | ||||||||||||||||||
| Hermansky-Pudlak syndrome 6 |
| Mouse Phenotypes | abnormal eye pigmentation |
decreased eye pigmentation |
abnormal eye morphology |
mydriasis |
abnormal retina morphology |
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| Availability | Mouse Genotype | |||||
| Hps6em1(IMPC)Tcp/Hps6em1(IMPC)Tcp | ||||||
| Hps6ru-3J/Hps6ru-3J | ||||||
| Hps6ru-4J/Hps6ru-4J | ||||||
| Hps6ru-6J/Hps6ru-6J | ||||||
| Hps6ru-7J/Hps6ru-7J | ||||||
| Hps6ru-8J/Hps6ru-8J | ||||||
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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