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Human Disease and Mouse Model Detail
Human Disease

Term: Hyperekplexia, Hereditary 1; HKPX1
OMIM ID: 149400

Synonyms Exaggerated Startle Reaction; Kok Disease; Startle Disease, Familial; Startle Reaction, Exaggerated; STHE; Stiff-Baby Syndrome; Stiff-Man Syndrome, Congenital; Stiff-Person Syndrome, Congenital
Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
Glra1 GLRA1
  mousehuman...both mouse and human orthologous genes.
     
Transgenes and
other mutation types
Tg(Thy1-GLRA1*R271Q)300Wha   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(Thy1-GLRA1*R271Q)382Wha

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Glra1spd/Glra1spd   involves: A/HeJ J:33924
Glra1tm1Betz/Glra1tm1Betz   B6.129P2-Glra1tm1Betz J:117236
Glra1tm1Rah/Glra1+   involves: 129X1/SvJ * C57BL/6J J:85341
Models involving transgenes or other mutation types.2
Tg(Thy1-GLRA1*R271Q)300Wha/0   involves: C57BL/6 * DBA/2 J:76009
Tg(Thy1-GLRA1*R271Q)382Wha/Tg(Thy1-GLRA1*R271Q)382Wha   involves: C57BL/6 * DBA/2 J:76009

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Models involving transgenes or other mutation types may also appear in other sections of the table.

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
04/03/2013
MGI 5.12
The Jackson Laboratory