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Symbol
Name
ID
Hps4
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
MGI:2177742
Phenotype annotations related to integument
Darker colors indicate more annotations
Human Phenotypes
Bruising susceptibility
Long eyelashes
Hypopigmentation of hair
Albinism
Hypopigmentation of the skin
Partial albinism
Melanocytic nevus
Thickened skin
Hyperkeratosis
Basal cell carcinoma
Squamous cell carcinoma of the skin
Disease(s) Associated with HPS4
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome 4

Mouse Phenotypes
abnormal ear pigmentation
diluted coat color
abnormal skin pigmentation
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
04/09/2024
MGI 6.23
The Jackson Laboratory