The loss of @entity14076 ( XXXX ) causes retinal pathogenesis in a vertebrate model of syndromic albinism.

@entity66 @entity14076 @entity377 @entity2118 @entity989 @entity13276 @entity13277 @entity902 @entity3392
PURPOSE: To establish the @entity3392 @entity902 mutant as a model for studying vision defects caused by syndromic @entity66 such as @entity13277 , Griscelli syndrome, and @entity13276 ( @entity13276 ). METHODS: Bulked segregant analysis and candidate gene sequencing revealed that the @entity3392 @entity902 mutation is a single- @entity377 insertion in the @entity14076 ( @entity14076 ) gene. Expression of @entity14076 was determined by RT-PCR and in situ hybridization. Mutants were analyzed for @entity2118 and @entity989 by histology, immunohistochemistry, and transmission electron microscopy. RESULTS: Phenocopy and rescue experiments determined that a loss of @entity14076 results in the @entity902 phenotype. Expression of @entity14076 appeared ubiquitous during @entity3392 development, with stronger expression in the developing retina and @entity989 ( @entity989 ). @entity3392 @entity902 mutants exhibited reduced pigmentation in the body and @entity989 ; however, melanophore development, migration, and dispersion occurred normally. @entity989 , photoreceptors, and inner retinal neurons formed normally in @entity3392 @entity902 mutants. However, a gradual loss of @entity989 , an absence of mature melanosomes, and the subsequent degradation of @entity989 /photoreceptor interdigitation was observed. CONCLUSIONS: These data show that @entity14076 is not necessary for normal retinal development or initiation of melanin biosynthesis, but is essential for melanosome maturation and healthy maintenance of the @entity989 and photoreceptors.
