{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Thomas JL"],"funding":["NEI NIH HHS","NCRR NIH HHS","NIEHS NIH HHS"],"pagination":["3119-28"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3109019"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["52(6)"],"pubmed_abstract":["<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 during"],"journal":["Investigative ophthalmology & visual science"],"pubmed_title":["The loss of vacuolar protein sorting 11 (vps11) causes retinal pathogenesis in a vertebrate model of syndromic albinism."],"pmcid":["PMC3109019"],"funding_grant_id":["R01 RR020357","R21 EY018919","R01 EY018417","R21EY019401","T32 ES011564","R01EY018417","R21EY018919","R21 EY019401"],"pubmed_authors":["Thomas JL","Vihtelic TS","Murphy TR","Gregg RG","Hyde DR","Willer G","Luo X","Thummel R","denDekker AD"],"additional_accession":[]},"is_claimable":false,"name":"The loss of vacuolar protein sorting 11 (vps11) causes retinal pathogenesis in a vertebrate model of syndromic albinism.","description":"<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 during","dates":{"release":"2011-01-01T00:00:00Z","publication":"2011 May","modification":"2026-04-30T15:25:30.838Z","creation":"2025-07-03T03:06:51.449Z"},"accession":"S-EPMC3109019","cross_references":{"pubmed":["21330665"],"doi":["10.1167/iovs.10-5957"]}}