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XB-GENEPAGE-854591
hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
Anatomical Phenotypes
Phenotypes manually curated with terms from the Xenopus phenotype ontology
covering anatomical, gene ontology, and neurobehavioral phenotypes.
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| abnormal retinal pigmented epithelium (3 sources), decreased pigmentation in the eye (3 sources), abnormal eye morphology (2 sources), abnormal intestine morphology (2 sources), decreased pigmentation in the whole organism (2 sources), decreased size of the eye (2 sources), abnormal inner ear morphology (1 source), abnormally decreased number of melanophore (1 source), absent eye (1 source), absent iridophore (1 source), decreased pigmentation in the epidermis (1 source) |
| Diseases
Diseases from the human disease ontology (DO) manually associated with phenotypes
from disease models. Sources are grouped by anatomical (AP) and expression (EP) phenotypes.
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| Hermansky-Pudlak syndrome (6AP sources), visceral heterotaxy (2AP sources) |
| Experiments (Reagents)
These are short form descriptions of experiments using reagents targeting
the gene of interest.
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| Xtr WT + TALEN hps6 (5 sources), Xtr.hps6mGrngr + nop BAC (1 source) |
| Monarch Ortholog Phenotypes
These phenotypes are associated with this gene with a has phenotype relation via Monarch.
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| Human (16 sources): Abnormal bleeding, Abnormal platelet granules, Absent foveal reflex, Albinism, Bruising susceptibility, Epistaxis, Global developmental delay, Impaired ADP-induced platelet aggregation, Macular hypoplasia, Nystagmus, [+] |
| Mouse (9 sources): abnormal circulating total protein level, abnormal exploration in a new environment, abnormal eye pigmentation, decreased ear pigmentation, decreased eye pigmentation, diluted coat color, hearing/vestibular/ear phenotype, immune system phenotype, increased exploration in new environment |
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View all ortholog results at Monarch |