Human Disease and Mouse Model Detail

Human Disease

Term: Hermansky-Pudlak Syndrome 2; HPS2
OMIM ID: 608233

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...

Ap3b1

AP3B1

...both mouse and human orthologous genes.

Ap3d1	AP3D1
Hps1	HPS1

...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
Ap3b1^pe-rim2/Ap3b1^pe-rim2		involves: B10.A(R201) * C57BL/10Slc	J:42685
Ap3b1^pe/Ap3b1^pe Hps1^ep/Hps1^ep		involves: C3H/He * C3HeB/FeJ * C57BL/6J	J:85431
Ap3b1^pe/Ap3b1^pe		involves: C3H/He	J:52879, J:80751
Models with phenotypic similarity to human disease where etiologies are distinct.²
Ap3d1^mh/Ap3d1^mh		B6.C3-Grxcr1^pi	J:29151

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not 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
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