Isocitrate dehydrogenase (IDH) is an enzyme required for the production of α-ketoglutarate from isocitrate. IDH3 generates the NADH used in the mitochondria for ATP production, and is a tetramer made up of two α, one β and one γ subunit. Loss-of-function and missense mutations in both and have previously been implicated in families exhibiting retinal degeneration.
View Article and Find Full Text PDFPurpose: As part of a large scale systematic screen to determine the effects of gene knockout mutations in mice, a retinal phenotype was found in mice lacking the Slc9a8 gene, encoding the sodium/hydrogen ion exchange protein NHE8. We aimed to characterize the mutant phenotype and the role of sodium/hydrogen ion exchange in retinal function.
Methods: Detailed histology characterized the pathological consequences of Slc9a8 mutation, and retinal function was assessed by electroretinography (ERG).
The melanocortin receptor, MC1R, is a key regulator of pigmentation in mammals, and is necessary for production of dark eumelanin pigment. Human MC1R variants with reduced or absent function are associated with red hair; mouse mutants result in yellow fur. Previous reports indicate differences between mouse and human receptors in their sensitivity to, and requirement for, alphaMSH agonist.
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