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Heritable Phenotypic Marker : hph1 hyperphenylalaninemia 1

Primary Identifier	MGI:96214	Organism	mouse, laboratory
Chromosome	14	Mgi Type	heritable phenotypic marker

description

FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Used to study hypertrophic pyloric stenosis and phenylketonuria.
PHENOTYPE: Mutations in this gene result in hyperphenylalaninemia. [provided by MGI curators]

synonyms:
hph-1,
hyperphenylalaninemia 1,
MGD-MRK-10916,
MGD-MRK-10918,
hph1

earliestPublication:
McDonald JD, et al. (1988) Biochemical defect of the hph-1 mouse mutant is a deficiency in GTP-cyclohydrolase activity. J Neurochem 50(2):655-7

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Involved In Mutations

0 Transgenic Expressors

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

Other

0 Driver For

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