Human Disease and Mouse Model Detail

Human Disease

Term: Hyperphenylalaninemia, Bh4-Deficient, A; HPABH4A
OMIM ID: 261640

Synonyms

6-pyruvoyl-Tetrahydropterin Synthase Deficiency; Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Pts Deficiency

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Pts

PTS

...both mouse and human orthologous genes.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Pts^tm1Ich/Pts^tm1Ich		involves: 129X1/SvJ * C57BL/6J	J:84764
Pts^tm1Thny/Pts^tm1Thny		involves: 129/Sv * C57BL/6	J:84533

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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