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Human Disease and Mouse Model Detail
Human Disease

Term: Cardiomyopathy, Familial Hypertrophic, 1; CMH1
OMIM ID: 192600

Synonyms Asymmetric Septal Hypertrophy; ASH; Cmh; Hypertrophic Subaortic Stenosis, Idiopathic; Ventricular Hypertrophy, Hereditary
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...
     
Cav3 CAV3
Myh6 MYH6
Myh7 MYH7
Mylk2 MYLK2
Slc25a4 SLC25A4
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Transgenes and
other mutation types
Tg(Myh6-Erbb2)6Kaga   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models involving transgenes or other mutation types.1
Tg(Myh6-Erbb2)6Kaga/0   involves: C57BL/6J * SJL/J J:189979

1Models involving transgenes or other mutation types may also appear in other sections of the table.

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