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Human Disease and Mouse Model Detail
Human Disease

Term: Dentatorubral-Pallidoluysian Atrophy; DRPLA
OMIM ID: 125370

Synonyms Ataxia, Chorea, Seizures, and Dementia; Haw River Syndrome; HRS; Myoclonic Epilepsy with Choreoathetosis; Naito-Oyanagi Disease; NOD
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...
     
Atn1 ATN1
  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(ATN1*)Q129Stsu   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(Eno2-ATN1)14Tx
Tg(Eno2-ATN1)3Tx
Tg(Prnp-ATN1)124Dbo
Tg(Prnp-ATN1)150Dbo

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models involving transgenes or other mutation types.1
Tg(ATN1*)Q129Stsu/0   involves: 129S/SvEv * C57BL/6J J:144379
Tg(Eno2-ATN1)14Tx/0   B6.Cg-Tg(Eno2-ATN1)14Tx J:112706
Tg(Eno2-ATN1)3Tx/Tg(Eno2-ATN1)3Tx   B6.Cg-Tg(Eno2-ATN1)3Tx J:112706
Tg(Prnp-ATN1)124Dbo/?   involves: C3H * C57BL/6 J:70362
Tg(Prnp-ATN1)150Dbo/?   involves: C3H * C57BL/6 J:70362

1Models 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
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory