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

被引：27

作者：

Khoo, JP

Nicoli, T

Alp, NJ

Fullerton, J

Flint, J

Channon, KM

机构：

[1] Univ Oxford, John Radcliffe Hosp, Oxford OX3 9DU, England

[2] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 9DU, England

来源：

MOLECULAR GENETICS AND METABOLISM | 2004年 / 82卷 / 03期

基金：

英国惠康基金;

关键词：

hph-1; genotyping; congenic interval; GCH; GTP cyclohydrolase I; tetrahydrobiopterin; hyperphenylalaninaemia;

D O I：

10.1016/j.ymgme.2004.04.006

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. (C) 2004 Elsevier Inc. All rights reserved.

引用

页码：251 / 254

页数：4

共 19 条

[1] Tetrahydrobiopterin-dependent preservation of nitric oxide-mediated endothelial function in diabetes by targeted transgenic GTP-cyclohydrolase I overexpression [J].