| Human Disease |
Hyperphenylalaninemia, Bh4-Deficient, A; HPABH4A OMIM ID: 261640 |
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| Synonyms | 6-pyruvoyl-Tetrahydropterin Synthase Deficiency; Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Pts Deficiency | |||||||||||||||||||||
| View all models | View ALL (2) mouse models for this human disease. | |||||||||||||||||||||
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Genes and mouse models |
Mutations in human and/or mouse homologs are associated with this disease
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| Allelic Composition | Genetic Background | Reference | Phenotypes |
| Ptstm1Thny/Ptstm1Thny |
involves: 129/Sv * C57BL/6 | J:84533 | View |
| Ptstm1Ich/Ptstm1Ich |
involves: 129X1/SvJ * C57BL/6J | J:84764 | View |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc |
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last database update 05/08/2013 MGI 5.13 |
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