| First Author | Khoo JP | Year | 2004 |
| Journal | Mol Genet Metab | Volume | 82 |
| Issue | 3 | Pages | 251-4 |
| PubMed ID | 15234340 | Mgi Jnum | J:91166 |
| Mgi Id | MGI:3046041 | Doi | 10.1016/j.ymgme.2004.04.006 |
| Citation | Khoo JP, et al. (2004) Congenic mapping and genotyping of the tetrahydrobiopterin-deficient hph-1 mouse. Mol Genet Metab 82(3):251-4 |
| abstractText | 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 1.6-2.8Mb, 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. |
