Symbol
Name
ID

Hps5
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
MGI:2180307

Phenotype annotations related to vision/eye

Darker colors indicate more annotations

Human Phenotypes

Astigmatism

Cataract

Iris hypopigmentation

Ocular albinism

Iris transillumination defect

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 HPS5

Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome 5

Mouse Phenotypes		abnormal eye pigmentation	abnormal choroid pigmentation	abnormal iris pigmentation	abnormal retina pigment epithelium morphology	decreased eye pigmentation	abnormal iris transillumination
Availability	Mouse Genotype	abnormal eye pigmentation	abnormal choroid pigmentation	abnormal iris pigmentation	abnormal retina pigment epithelium morphology	decreased eye pigmentation	abnormal iris transillumination
	Hps5^em1(IMPC)J/Hps5^em1(IMPC)J
	Hps5^ru2-8J/Hps5^ru2-8J
	Hps5^ru2-Btlr/Hps5^ru2-Btlr
	Hps5^ru2-hz/Hps5^ru2-hz
	Hps5^ru2-mr/Hps5^ru2-mr
	Hps5^ru2-r/Hps5^ru2-r
	Hps5^ru2/Hps5^ru2

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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