Human Disease and Mouse Model Detail

Human Disease

Term: Hermansky-Pudlak Syndrome 3; HPS3
OMIM ID: 614072

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...

Hps3

HPS3

...both mouse and human orthologous genes.

Mreg	MREG
Myo5a	MYO5A

...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
Hps3^coa-6J/Hps3^coa-6J		C3H/HeJ	J:63693
Hps3^coa/Hps3^coa		involves: C57BL/10J	J:9300, J:80751
Hps3^coa/Hps3^coa Myo5a^d/Myo5a^d Mreg^dsu/Mreg^dsu		involves: C57BL/10J	J:29467

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
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