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Symbol
Name
ID
Ap3b1
adaptor-related protein complex 3, beta 1 subunit
MGI:1333879
Phenotype annotations related to integument
Darker colors indicate more annotations
Human Phenotypes
Bruising susceptibility
Long eyelashes
Chronic oral candidiasis
Hypopigmentation of hair
Albinism
Fair hair
Aberrant melanosome maturation
Hypopigmentation of the skin
Generalized hypopigmentation
Partial albinism
Melanocytic nevus
Thickened skin
Hyperkeratosis
Basal cell carcinoma
Squamous cell carcinoma of the skin
Disease(s) Associated with AP3B1
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome 2

Mouse Phenotypes
decreased ear pigmentation
abnormal coat/hair pigmentation
diluted coat color
abnormal skin pigmentation
abnormal foot pigmentation
decreased tail pigmentation
Availability Mouse Genotype
Ap3b1m1Btlr/Ap3b1m1Btlr
Ap3b1m2Btlr/Ap3b1m2Btlr
Ap3b1pe-7J/Ap3b1pe-7J
Ap3b1pe-8J/Ap3b1pe-8J
Ap3b1pe-10J/Ap3b1pe-10J
Ap3b1pe-11J/Ap3b1pe-11J
Ap3b1pe-13J/Ap3b1pe-13J
Ap3b1pe-14J/Ap3b1pe-14J
Ap3b1pe-15J/Ap3b1pe-15J
Ap3b1pe-16J/Ap3b1pe-16J
Ap3b1tm1.1Sms/Ap3b1tm1.1Sms
Ap3b1tm1Sms/Ap3b1tm1Sms
Ap3b1pe-5J/?

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
05/14/2024
MGI 6.23
The Jackson Laboratory