Scientific highlights


PAX6 mutation alters circadian rhythm

...and β cell function in mice without affecting glucose tolerance

Graphical summary - Chhabra at al. 2020

Nirav Chhabra et al., from the Institute of Experimental Genetics, characterized adult mice carrying a homozygous mutation in Pax6 that was identified in a patient with foveal hypoplasia. They found that the Pax6 point mutation has pleiotropic effects, including defects in the mouse retinal structures, loss of the optic nerve, changes in energy metabolism and circadian rhythms, and dysregulation of genes expressed in the pancreas.

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