Article

A slc38a8 mouse model of FHONDA syndrome faithfully recapitulates the visual deficits of albinism without pigmentation defects

2023-08-19

Abstract excerpt

<h4>Summary</h4> <h4>Purpose</h4> We aimed to generate and phenotype a mouse model of FHONDA (Foveal Hypoplasia, Optic Nerve Decussation Defects, and Anterior Segment Dysgenesis), a rare disease associated with mutations in SLC38A8 that causes severe visual alterations similar to albinism without affecting pigmentation. <h4>Methods</h4> The FHONDA mouse model was generated with CRISPR (Clustered Regularly Int...

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Literature Corpus work: 1c572fba-582c-5266-a673-b51038b9f524
DOI: 10.1101/2023.08.19.553949

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