Human Disease and Mouse Model Detail

Human Disease

Term: Albinism, Oculocutaneous, Type IV; OCA4
OMIM ID: 606574

Synonyms

Oculocutaneous Albinism, Type IV

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...

Slc45a2

SLC45A2

...both mouse and human orthologous genes.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Slc45a2^uw-6J/Slc45a2^uw-6J		CAST/EiJ-Slc45a2^uw-6J/GrsrJ	J:190732
Slc45a2^uw-7J/Slc45a2^uw-7J		C3H/HeJ-Slc45a2^uw-7J/GrsrJ	J:190733
Slc45a2^uw-bls/Slc45a2^uw-bls		wild Corsican mouse	J:13805
Slc45a2^uw-d/Slc45a2^uw-d		TF/Le	J:41299
Slc45a2^Uw-dbr/Slc45a2^Uw-dbr		B10.PL-H2^u/(73NS)Sn	J:41299
Slc45a2^Uw-dbr/Slc45a2⁺		B10.PL-H2^u/(73NS)Sn	J:41299
Slc45a2^uw/Slc45a2^uw		C57BL/6J	J:41299

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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