title: Congenic mapping and genotyping of the tetrahydrobiopterin-deficient hph-1 mouse.
abstract: 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.
authors.affiliation: Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
authors.forename: Jeffrey P
authors.initials: JP
authors.lastname: Khoo
authors.forename: Taija
authors.initials: T
authors.lastname: Nicoli
authors.forename: Nicholas J
authors.initials: NJ
authors.lastname: Alp
authors.forename: Janice
authors.initials: J
authors.lastname: Fullerton
authors.forename: Jonathan
authors.initials: J
authors.lastname: Flint
authors.forename: Keith M
authors.initials: KM
authors.lastname: Channon
mesh_terms: D000818:Animals; D001708:Biopterins / Q000031:analogs & derivatives* / Q000172:deficiency*; D002851:Chromatography, High Pressure Liquid; D002874:Chromosome Mapping; D003433:Crosses, Genetic; D017931:DNA Primers; D006136:GTP Cyclohydrolase / Q000172:deficiency*; D005819:Genetic Markers; D005838:Genotype; D051379:Mice; D008810:Mice, Inbred C57BL; D008808:Mice, Inbred CBA; D008818:Mice, Neurologic Mutants; D010661:Phenylketonurias / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D001708:Biopterins; D006136:GTP Cyclohydrolase; C003402:sapropterin