About   Help   FAQ
Human Disease and Mouse Model Detail
Human Disease

Term: Dystonia, Dopa-Responsive; DRD
OMIM ID: 128230

Synonyms Dopa-Responsive Dystonia, Autosomal Dominant; Dystonia 5; DYT5; Dystonia, Dopa-Responsive, Autosomal Dominant; Dystonia-Parkinsonism with Diurnal Fluctuation; Dystonia, Progressive, with Diurnal Variation; Segawa Syndrome, Autosomal Dominant
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...
     
Pts PTS
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Gch1 GCH1
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Transgenes and
other mutation types
Tg(DBH-PTS)6Csic   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.1
Ptstm1Ich/Ptstm1Ich
Tg(DBH-PTS)6Csic/0
  involves: 129X1/SvJ * C57BL/6J J:138968
Ptstm1Ich/Ptstm1Ich
Tg(DBH-PTS)6Csic/0
  B6.Cg-Ptstm1Ich Tg(DBH-PTS)6Csic J:102278
Models involving transgenes or other mutation types.2
Ptstm1Ich/Ptstm1Ich
Tg(DBH-PTS)6Csic/0
  involves: 129X1/SvJ * C57BL/6J J:138968
Ptstm1Ich/Ptstm1Ich
Tg(DBH-PTS)6Csic/0
  B6.Cg-Ptstm1Ich Tg(DBH-PTS)6Csic J:102278

1Human genes are associated with this disease. Mouse model genotypes do not 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
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/03/2013
MGI 5.12
The Jackson Laboratory