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Wolfram syndrome is a rare genetic disorder with mutations in the gene WFS1. The corresponding protein wolframin, a transmembrane protein located in the endoplasmic reticulum, is involved in multiple metabolic processes. Pa-tients suffer from several complications, including diabetes from infancy and progressive complete vision loss. Here, Rossi et al concentrated on the retinal phenotype in a Wolfram syndrome mouse model, to describe the progression of the disease and the underlying mechanisms.
This study describes phenotypic differences between constitutive and conditional mutant mouse models of Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder caused by mutations in the CHD4 gene. Behavioral and organ-ic deficits depended on the location and timing of the loss-of-function mutation of CHD4, resulting in unexpected phenotypic divergence. As many of the behavioral tests were vision-based, Larrigan et al used the OptoDrum to es-tablish that there were no obvious visual deficits in these mice.
