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Human Disease and Mouse Model Detail
Human Disease

Term: Hermansky-Pudlak Syndrome 6; HPS6
OMIM ID: 614075

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...
Hps6 HPS6
  mousehuman...both mouse and human orthologous genes.
     
a ASIP
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
a/a
Hps6ru/Hps6ru		   B6.Cg-Hps6ru J:81444
Hps6ru-6J/Hps6ru-6J   involves: C3H/HeJ J:81444

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory