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Phenotype Image Detail
Image
Caption Compared with the wild-type mouse(right) the Ap3b1pe/Ap3b1pe mouse (left), lacks pigmentation of the ears, feet and tail, as well as having a diluted coat color. The homozygous mutant mouse has prolonged bleeding times associated with storage pood deficiency (SDP) and lysosomal accumulation of ceroid pigment. This combination of abnormalities is characteristic of a human heriditary disease, Hermansky-Pudlak syndrome.
Copyright Photo donated for Mouse Genome Informatics Database use J:110244
Associated
Alleles
Symbol Name
Ap3b1pe adaptor-related protein complex 3, beta 1 subunit; pearl
Associated
Genotypes
Allelic Composition Genetic Background
Ap3b1pe/Ap3b1pe B6Pin.C3-Ap3b1pe/J

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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
11/19/2024
MGI 6.24
The Jackson Laboratory