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Phenotype Image Detail
Image
Caption Ultrastructure of eye tissue and cultured skin melanocytes from wild-type (b & d) and Hps1ep/Hps1ep (a & c) mice. Upper: Sections through wild-type and homozygous mutant mouse eyes showing the pigmented retinal epithelium. Lower: Cultured skin melanocytes from homozygous and wild-type mice. Large melanosomes (macromelanosomes) are seen in the choroid and cultured melanocytes from homozygous mutant mice, which may be derived from fusions of smaller vesicles. Retinal melanocytes from homozygous mice exhibit smaller melanosomes than wild-type controls and are more unevenly pigmented. Abbreviations: retinal epithelium (RPE); choroid (CH); red blood cells (RBC); melanosomes (M) Scalebar: 2um
Copyright This image is from Gardner JM, Proc Natl Acad Sci U S A 1997 Aug 19;94(17):9238-43. Copyright 1997 National Academy of Sciences, U.S.A. J:42484
Associated
Alleles
Symbol Name
Hps1ep HPS1, biogenesis of lysosomal organelles complex 3 subunit 1; pale-ear
Associated
Genotypes
Allelic Composition Genetic Background
Hps1ep/Hps1ep involves: C3HeB/FeJ * C57BL/6J

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
04/23/2024
MGI 6.23
The Jackson Laboratory