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The hph-1 ENU-mutant mouse provides a model of tetrahydrobiopterin deficiency for studying hyperphenylalaninaemia, dopa-response dystonia, and vascular dysfunction. We have successively localized the hph-1 mutation to a congenic interval of 1.6-2.8 Mb, containing the GCH gene encoding GTP cyclohydrolase I (GTP-CH I). We used these data to establish a PCR method for genotyping wild type, hph-1 and heterozygote mice, and found that heterozygote animals have partial tetrahydrobiopterin deficiency. These new findings will extend the utility of the hph-1 mouse in studies of GTP-CH I deficiency.

Original publication




Journal article


Mol Genet Metab

Publication Date





251 - 254


Animals, Biopterin, Chromatography, High Pressure Liquid, Chromosome Mapping, Crosses, Genetic, DNA Primers, GTP Cyclohydrolase, Genetic Markers, Genotype, Mice, Mice, Inbred C57BL, Mice, Inbred CBA, Mice, Neurologic Mutants, Phenylketonurias, Polymerase Chain Reaction