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Symbol
Name
ID
Hps4
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
MGI:2177742
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Astigmatism
Cataract
Iris hypopigmentation
Ocular albinism
Abnormal optic nerve morphology
Abnormality of visual evoked potentials
Strabismus
Nystagmus
Myopia
Photophobia
Visual impairment
Amblyopia
Disease(s) Associated with HPS4
Hermansky-Pudlak syndrome

Mouse Phenotypes
abnormal eye pigmentation
abnormal choroid pigmentation
abnormal retina pigment epithelium morphology
Availability Mouse Genotype
Hps4le/Hps4le

Contributing Projects:
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
07/02/2024
MGI 6.13
The Jackson Laboratory