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Human Disease and Mouse Model Detail
Human Disease Hyperekplexia, Hereditary 1; HKPX1
OMIM ID: 149400
Synonyms Exaggerated Startle Reaction; Hyperekplexia; Kok Disease; Startle Disease, Familial; Startle Reaction, Exaggerated; STHE; Stiff-Baby Syndrome; Stiff-Man Syndrome, Congenital; Stiff-Person Syndrome, Congenital
View all models View ALL (5) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Gene is associated with the disease in this species
      Mouse Homologs Human Homologs Mouse Models Mouse : Human
Homology Class
     Glra1* GLRA1* View 3 models 1:1 Homology
     Gphn GPHN*   1:1 Homology
Transgenes and
other genome features
Transgenes and other genome features developed in mice to model this disease.

     Transgenes and Other Genome Features Mouse Models
  Tg(Thy1-GLRA1*R271Q)300Wha View 1 model
  Tg(Thy1-GLRA1*R271Q)382Wha View 1 model
References Disease References using Mouse Models (5)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/16/2014
MGI 5.20
The Jackson Laboratory