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Human Disease and Mouse Model Detail
Human Disease

Term: CHARGE Syndrome
OMIM ID: 214800

Synonyms Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies; Hall-Hittner Syndrome; HHS
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...
Chd7 CHD7
  mousehuman...both mouse and human orthologous genes.
     
Sema3e SEMA3E
  human...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
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Chd7Gt(S20-7E1)Sor/Chd7Gt(S20-7E1)Sor   involves: 129S1/SvImJ * 129S4/SvJae * C57BL/6J J:119812
Chd7Gt(S20-7E1)Sor/Chd7+   involves: 129S1/SvImJ * 129S4/SvJae * C57BL/6J J:119812
Chd7Gt(S20-7E1)Sor/Chd7+   either: (involves: 129S4/SvJae * C57BL/6J) or (involves: 129S1/SvImJ * 129S4/SvJae C57BL/6J) J:123608
Chd7Ome/Chd7+   involves: BALB/cByJ * C57BL/6J J:187200
Chd7Whi/Chd7+   involves: C3HeB/FeJ J:104123

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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory