Congenic mapping and genotyping of the tetrahydrobiopterin-deficient hph-1 mouse

Molecular Genetics and Metabolism
Jeffrey P KhooKeith M Channon

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.

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Citations

Oct 4, 2011·American Journal of Physiology. Heart and Circulatory Physiology·Livius V d'UscioZvonimir S Katusic
Jan 6, 2015·Developmental Biology·Gillian DouglasKeith M Channon
Jul 13, 2012·Journal of Neurochemistry·Anantha Vijay R SanthanamZvonimir S Katusic
Aug 27, 2011·The Biochemical Journal·Ernst R WernerBeat Thöny
Sep 15, 2014·Neuroscience Research·Arafat NasserJesper T Andreasen
Jun 2, 2007·Arteriosclerosis, Thrombosis, and Vascular Biology·Matthew P Coggins, Kenneth D Bloch
Apr 13, 2005·Circulation·Jeffrey P KhooKeith M Channon
Jul 2, 2017·Neuroscience Bulletin·Alban Latremoliere, Michael Costigan
Sep 28, 2020·Microvascular Research·Serge SimonetMarie-Pierre Bourguignon

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