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Human Disease and Mouse Model Detail
Human Disease

Term: Myotonic Dystrophy 1; DM1
OMIM ID: 160900

Synonyms Dystrophia Myotonica 1; Dystrophia Myotonica; DM; Steinert Disease
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...
Dmpk DMPK
  mousehuman...both mouse and human orthologous genes.
     
Mbnl1 MBNL1
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Transgenes and
other mutation types
Tg(CAG-DMPK*)1323Coop   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(Ckm-CUGBP1)1039Coop
Tg(DM15)26Bew
Tg(HSA*LR)20aCath
Tg(HSA*LR)20bCath
Tg(HSA*LR)21Cath
Tg(HSA*LR)32aCath
Tg(HSA*LR)32bCath
Tg(HSA*LR)41Cath
Tg(Myh6-rtTA)8585Jam
Tg(tetO-CUGBP1)3413Coop

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Dmpktm1Rdd/Dmpk+   involves: 129S2/SvPas * C57BL/6J J:53077
Dmpktm1Rdd/Dmpktm1Rdd   involves: 129S2/SvPas * C57BL/6J J:33714, J:53077
Models with phenotypic similarity to human disease where etiologies are distinct.2
Mbnl1tm1Sws/Mbnl1tm1Sws   involves: 129S1/Sv * C57BL/6J J:86903
Models involving transgenes or other mutation types.3
Tg(ACTA1-cre/ERT2)97.16Mtz/0
Tg(CAG-DMPK*)1323Coop/0
4 involves: FVB J:132154
Tg(CAG-DMPK*)1323Coop/0
Tg(Myh6-cre/Esr1*)1Jmk/0
4 involves: FVB J:127391
Tg(Ckm-CUGBP1)1039Coop/0   FVB-Tg(Ckm-CUGBP1)1039Coop J:99370
Tg(DM15)26Bew/0   involves: FVB J:93614
Tg(HSA*LR)20aCath/?   involves: FVB/N J:64493
Tg(HSA*LR)20bCath/?   involves: FVB/N J:64493
Tg(HSA*LR)21Cath/?   involves: FVB/N J:64493
Tg(HSA*LR)32aCath/?   involves: FVB/N J:64493
Tg(HSA*LR)32bCath/?   involves: FVB/N J:64493
Tg(HSA*LR)41Cath/?   involves: FVB/N J:64493
Tg(Myh6-rtTA)8585Jam/0
Tg(tetO-CUGBP1)3413Coop/0
  involves: FVB * FVB/N * FVB/NTac J:157646

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