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Human Disease and Mouse Model Detail
Human Disease

Term: Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency
OMIM ID: 608931

Synonyms Myasthenic Syndrome, Congenital, Postsynaptic, Associated with Acetylcholine Receptor Deficiency; Myasthenic Syndrome, Congenital, Type ID; CMS1D
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...
Chrne CHRNE
Musk MUSK
  mousehuman...both mouse and human orthologous genes.
     
Chrnb1 CHRNB1
Gfpt1 GFPT1
Rapsn RAPSN
  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
Chrnetm1Vwi/Chrnetm1Vwi   involves: 129P2/OlaHsd * C57BL/6 J:128178
Musktm1.1Vwi/Musktm2Vwi   Not Specified J:141024
Musktm1Vwi/Musktm1.1Vwi
Tg(Ckmm-cre)5Khn/0
2 involves: C57BL/6J * FVB J:106867
Musktm1Vwi/Musktm1Vwi
Tg(Ckmm-cre)5Khn/0
2 involves: C57BL/6J * FVB J:106867

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Conditionally 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