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Human Disease and Mouse Model Detail
Human Disease

Term: Cardiomyopathy, Dilated, 1A; CMD1A
OMIM ID: 115200

Synonyms Cardiomyopathy, Congestive; Cardiomyopathy, Dilated, with Conduction Defect 1; CDCD1; Cardiomyopathy, Familial Idiopathic; Cardiomyopathy, Idiopathic Dilated
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...
Lmna LMNA
  mousehuman...both mouse and human orthologous genes.
     
Dot1l DOT1L
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Mybpc3 MYBPC3
  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(Myh7-RARA/lacZ)30Mcco   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 with phenotypic similarity to human disease where etiologies involve orthologs.1
Lmnatm1Stw/Lmnatm1Stw   involves: 129S1/Sv J:87613, J:131905
Lmnatm3Stw/Lmnatm3Stw   involves: 129S1/Sv * 129S4/SvJaeSor * C57BL J:100393
Models with phenotypic similarity to human disease where etiologies are distinct.2
Dot1ltm1Tche/Dot1ltm1.1Tche
Tg(Myhca-cre)1Abel/0
4 Not Specified J:168140
Models involving transgenes or other mutation types.3
Tg(Myh7-RARA/lacZ)30Mcco/0   Not Specified J:146424

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
3Models involving transgenes or other mutation types may also appear in other sections of the table.
4Conditionally targeted allele(s)

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