Human Disease and Mouse Model Detail

Human Disease

Term: Hemifacial Microsomia; HFM
OMIM ID: 164210

Synonyms

Facioauriculovertebral Sequence; Fav Sequence; Goldenhar Syndrome; OAV Dysplasia; Oculoauriculovertebral Dysplasia; Oculoauriculovertebral Spectrum; OAVS

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...

Hfm	none identified
Zic3	ZIC3

...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 diseases where etiology is unknown or involving genes where ortholog is unknown.¹
Hfm/Hfm⁺		involves: SWV-Mbp^shi	J:21097
Zic3^tm1Jwb/Y		either: (involves: 129S6/SvEvTac * 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)	J:117748
Zic3^tm1Jwb/Zic3^tm1Jwb		either: (involves: 129S6/SvEvTac * 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)	J:117748

¹The causal human genes for this disease have not been identified. Genotypes may include cases where the mouse structural gene or the human ortholog has not been identified.

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