Human Disease and Mouse Model Detail

Human Disease

Term: Phenylketonuria; PKU
OMIM ID: 261600

Synonyms

Oligophrenia Phenylpyruvica; PAH Deficiency; Phenylalanine Hydroxylase 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...

Pah

PAH

...both mouse and human orthologous genes.

Hnf1a	HNF1A
hph1	none identified

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Pah^enu2/Pah^enu2			BTBR-Pah^enu2/J	J:178269
Pah^enu2/Pah^enu2			involves: BTBR	J:38411
Pah^enu3/Pah^enu3			involves: BTBR	J:13320
Models with phenotypic similarity to human disease where etiologies are distinct.²
Hnf1a^tm1Mya/Hnf1a^tm1Mya			involves: 129S2/SvPas	J:31627
hph1/hph1			involves: C57BL/6 * CBA/Ca	J:9146, J:101792
No similarity to the expected human disease phenotype was found.³
NOT	Pah^enu1/Pah^enu1		involves: 101 * C3H	J:38411
NOT	Pah^enu1/Pah^enu2		involves: 101 * C3H * BTBR	J:62365

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
³One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

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