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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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.[1]

References

  1. Congenic mapping and genotyping of the tetrahydrobiopterin-deficient hph-1 mouse. Khoo, J.P., Nicoli, T., Alp, N.J., Fullerton, J., Flint, J., Channon, K.M. Mol. Genet. Metab. (2004) [Pubmed]
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