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Symbol
Name
ID
Hps5
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
MGI:2180307
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 HPS5
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome 5

Mouse Phenotypes
decreased ear pigmentation
abnormal coat/hair pigmentation
diluted coat color
abnormal foot pigmentation
decreased foot pigmentation
decreased tail pigmentation
Availability Mouse Genotype
Hps5ru2-2Btlr/Hps5ru2-2Btlr
Hps5ru2-3Btlr/Hps5ru2-3Btlr
Hps5ru2-4Btlr/Hps5ru2-4Btlr
Hps5ru2-8J/Hps5ru2-8J
Hps5ru2-Btlr/Hps5ru2-Btlr
Hps5ru2-hz/Hps5ru2-hz
Hps5ru2-mr/Hps5ru2-mr
Hps5ru2-r/Hps5ru2-r
Hps5ru2/Hps5ru2

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