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hph1
Gene Detail
Symbol

Name
ID
hph1
hyperphenylalaninemia 1
MGI:96214
Synonyms
hph-1
Feature Type
heritable phenotypic marker
Genetic Map
Chromosome 14
Syntenic

Mapping data(6)
Mutations,
alleles, and
phenotypes
All mutations/alleles(1) : Chemically induced (ENU)(1)
 
Mutations in this gene result in hyperphenylalaninemia.
 
Human Diseases Modeled in Mice Using hph1 (2)    Mutations Annotated to Human Diseases (1)   
Gene Ontology
(GO)
classifications
All GO classifications: (4 annotations)
Process cGMP metabolic process, L-phenylalanine metabolic process, ...
Function GTP cyclohydrolase activity
Other database
links
Entrez Gene15447
References
(Earliest) J:14082 Bode VC, et al., Hph-1 closely linked to Np-1 on Chromosome 14. Mouse News Lett. 1986;74:97
(Latest) J:217509 Nasser A, et al., Anxiety- and depression-like phenotype of hph-1 mice deficient in tetrahydrobiopterin. Neurosci Res. 2014 Dec;89:44-53
All references(30)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-10916, MGD-MRK-10918

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
02/25/2015
MGI 5.21
The Jackson Laboratory