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hph1 Gene Detail
Summary
  • Symbol
    hph1
  • Name
    hyperphenylalaninemia 1
  • Synonyms
    hph-1
  • Feature Type
    heritable phenotypic marker
  • IDs
    MGI:96214
    NCBI Gene: 15447
  • Alliance
    gene page
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
    35 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 41
    Diseases 2
    Phenotypes 35
  • 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
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory