About   Help   FAQ
hph1 Gene Detail
Summary
  • Symbol
    hph1
  • Name
    hyperphenylalaninemia 1
  • Synonyms
    hph-1
  • Feature Type
    heritable phenotypic marker
  • IDs
    MGI:96214
    NCBI Gene: 15447
  • Alliance
Location &
Maps
more
  • Sequence Map
    Genome coordinates not available from the current reference assembly.
  • Genetic Map
    Chromosome 14, Syntenic
  • Mapping Data
    6 experiments
Human Diseases
more
  • Diseases
    2 with hph1 mouse models

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 1 allele in 1 genetic background
    34 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutations in this gene result in hyperphenylalaninemia.
Sequences &
Gene Models
less
Other
Accession IDs
less
MGD-MRK-10916, MGD-MRK-10918
References
more
  • Summaries
    All 40
    Diseases 2
    Phenotypes 34
  • Earliest
    J:8982 McDonald JD, et al., Biochemical defect of the hph-1 mouse mutant is a deficiency in GTP-cyclohydrolase activity. J Neurochem. 1988 Feb;50(2):655-7
  • Latest
    J:343495 Edgar KS, et al., BH4 supplementation reduces retinal cell death in ischaemic retinopathy. Sci Rep. 2023 Dec 2;13(1):21292

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/12/2024
MGI 6.23
The Jackson Laboratory