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Human Disease and Mouse Model Detail
Human Disease Endplate Acetylcholinesterase Deficiency; EAD
OMIM ID: 603034
Synonyms Cms IC; Congenital Myasthenic Syndrome Type Ic; CMS1C; Engel Congenital Myasthenic Syndrome; Myasthenic Syndrome, Congenital, Engel Type
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Gene is associated with the disease in this species
      Mouse Homologs Human Homologs Mouse Models Mouse : Human
Homology Class
     Colq COLQ*   1:1 Homology

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
09/16/2014
MGI 5.19
The Jackson Laboratory