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Symbol
Name
ID
Ap3b1
adaptor-related protein complex 3, beta 1 subunit
MGI:1333879
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
Horizontal nystagmus
Myopia
Photophobia
Visual impairment
Reduced visual acuity
Amblyopia
Disease(s) Associated with AP3B1
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome 2

Mouse Phenotypes
abnormal eye pigmentation
decreased eye pigmentation
cataract
anophthalmia
Availability Mouse Genotype
Ap3b1pe-8J/Ap3b1pe-8J
Ap3b1pe-10J/Ap3b1pe-10J
Ap3b1pe-15J/Ap3b1pe-15J
Ap3b1pe-rim2/Ap3b1pe-rim2
Ap3b1tm1Sms/Ap3b1tm1Sms

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
04/16/2024
MGI 6.23
The Jackson Laboratory