Usherin defects lead to early-onset retinal dysfunction in zebrafish.

ABSTRACT: Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal recessive nonsyndromic retinitis pigmentosa. To unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration and to evaluate future therapeutic strategies that could potentially halt the progression of this devastating disorder, an animal model is needed. The available Ush2a knock-out mouse model does not mimic the human phenotype, because it presents with only a mild and late-onset retinal degeneration. Using CRISPR/Cas9-technology, we introduced protein-truncating germline lesions into the zebrafish ush2a gene (ush2a^rmc1: c.2337_2342delinsAC; p.Cys780GlnfsTer32 and ush2a^b1245: c.15520_15523delinsTG; p.Ala5174fsTer). Homozygous mutants were viable and displayed no obv

SUBMITTER: Dona M 

PROVIDER: S-EPMC6054812 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature