biostudies-literatureThomas JLNEI NIH HHSNCRR NIH HHSNIEHS NIH HHS3119-28https://www.ebi.ac.uk/biostudies/studies/S-EPMC3109019biostudies-literatureUnknown52(6)<h4>Purpose</h4>To establish the zebrafish platinum mutant as a model for studying vision defects caused by syndromic albinism diseases such as Chediak-Higashi syndrome, Griscelli syndrome, and Hermansky-Pudlak syndrome (HPS).<h4>Methods</h4>Bulked segregant analysis and candidate gene sequencing revealed that the zebrafish platinum mutation is a single-nucleotide insertion in the vps11 (vacuolar protein sorting 11) gene. Expression of vps11 was determined by RT-PCR and in situ hybridization. Mutants were analyzed for pigmentation defects and retinal disease by histology, immunohistochemistry, and transmission electron microscopy.<h4>Results</h4>Phenocopy and rescue experiments determined that a loss of Vps11 results in the platinum phenotype. Expression of vps11 appeared ubiquitous duringInvestigative ophthalmology & visual scienceThe loss of vacuolar protein sorting 11 (vps11) causes retinal pathogenesis in a vertebrate model of syndromic albinism.PMC3109019R01 RR020357R21 EY018919R01 EY018417R21EY019401T32 ES011564R01EY018417R21EY018919R21 EY019401Thomas JLVihtelic TSMurphy TRGregg RGHyde DRWiller GLuo XThummel RdenDekker ADfalseThe loss of vacuolar protein sorting 11 (vps11) causes retinal pathogenesis in a vertebrate model of syndromic albinism.<h4>Purpose</h4>To establish the zebrafish platinum mutant as a model for studying vision defects caused by syndromic albinism diseases such as Chediak-Higashi syndrome, Griscelli syndrome, and Hermansky-Pudlak syndrome (HPS).<h4>Methods</h4>Bulked segregant analysis and candidate gene sequencing revealed that the zebrafish platinum mutation is a single-nucleotide insertion in the vps11 (vacuolar protein sorting 11) gene. Expression of vps11 was determined by RT-PCR and in situ hybridization. Mutants were analyzed for pigmentation defects and retinal disease by histology, immunohistochemistry, and transmission electron microscopy.<h4>Results</h4>Phenocopy and rescue experiments determined that a loss of Vps11 results in the platinum phenotype. Expression of vps11 appeared ubiquitous during2011-01-01T00:00:00Z2011 May2026-04-30T15:25:30.838Z2025-07-03T03:06:51.449ZS-EPMC31090192133066510.1167/iovs.10-5957