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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.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Khoo JP,Nicoli T,Alp NJ,Fullerton J,Flint J,Channon KM

doi

10.1016/j.ymgme.2004.04.006

subject

Has Abstract

pub_date

2004-07-01 00:00:00

pages

251-4

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096719204001167

journal_volume

82

pub_type

杂志文章

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