Categories: Homeostasis / metabolism phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 309850 (gene) , 309860 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: unknown

Species-specific description: Pierre et al. (2023) "assessed the structural and biochemical consequences of a point mutation (P106L) in the single mao gene of the blind cavefish, Astyanax mexicanus. This mutation decreased mao enzymatic activity by ∼3-fold and affected the enzyme kinetics parameters, in line with potential structure-function alterations. HPLC measurements in brains of four Astyanax genetic lines (mutant and non-mutant cavefish; mutant and non-mutant surface fish) showed major disturbances in serotonin, dopamine, noradrenalin and metabolites levels in mutants and demonstrated that the P106L mao mutation is responsible for monoaminergic disequilibrium in the P106L mao mutant cavefish brain."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing