Human Disease and Mouse Model Detail

Human Disease

Term: Waardenburg Syndrome, Type 3; WS3
OMIM ID: 148820

Synonyms

Klein-Waardenburg Syndrome; Waardenburg Syndrome, Type III; Waardenburg Syndrome with Upper Limb Anomalies

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...

Pax3

PAX3

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background	Ref(s)
No similarity to the expected human disease phenotype was found.¹
NOT	Pax3^Sp-2H/Pax3^Sp-2H		involves: 101 * C3H/He * CBA/Ca	J:46341
NOT	Pax3^Sp-2H/Pax3⁺		involves: C57BL/6	J:14096
NOT	Pax3^Sp-2H/Pax3^Sp-2H		involves: C57BL/6	J:14096
NOT	Pax3^Sp-d/Pax3^Sp-d		C57BL/6J	J:238
NOT	Pax3^Sp-d/Pax3⁺		C57BL/6J	J:238

¹One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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