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Human Disease and Mouse Model Detail
Human Disease

Term: Paroxysmal Nonkinesigenic Dyskinesia 1; PNKD1
OMIM ID: 118800

Synonyms Choreoathetosis, Familial Paroxysmal; FPD1; Choreoathetosis, Nonkinesigenic; Dystonia 8; DYT8; Mount-Reback Syndrome; Paroxysmal Dystonic Choreoathetosis; PDC
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...
     
Pnkd PNKD
  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(Pnkd*A7V*A9V)671Ljp   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(Pnkd*A7V*A9V)704Ljp

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models involving transgenes or other mutation types.1
Tg(Pnkd*A7V*A9V)671Ljp/0   B6.Cg-Tg(Pnkd*A7V*A9V)671Ljp J:192798
Tg(Pnkd*A7V*A9V)704Ljp/0   B6.Cg-Tg(Pnkd*A7V*A9V)704Ljp J:192798

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