Cognitive Deficits in a Genetic Mouse Model of the Most Common Biochemical Cause of Human Mental Retardation

摘要: Phenylalanine hydroxylase ( Pah )-deficient “PKU mice” have a mutation in the gene that causes phenylketonuria (PKU) humans. PKU produces cognitive deficits humans if it is untreated. We report here first evidence genetic mouse model of enu2 ) also impairments. mice were impaired on both odor discrimination reversal and latent learning compared with heterozygote littermates wild-type same BTBR strain. A small container cinnamon-scented sand was presented right or left, nutmeg-scented other side; left–right location varied over trials. Digging correct scent rewarded by finding phenylalanine-free chocolate. To prevent cuing, new containers used every trial, always contained incorrect choice stopped before chocolate uncovered. Once criterion reached, rewarded. reversals 2, 3, 4. They learning. On day 1, half allowed to explore maze discover water. all water-deprived placed maze. Whereas pre-exposed heterozygous showed they remembered water hence could find faster no significant benefit from their pre-exposure 1.