Human Disease and Mouse Model Detail

Human Disease

Term: Myasthenic Syndrome, Congenital, Slow-Channel; SCCMS
OMIM ID: 601462

Synonyms

Cms IIA; Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel; Myasthenic Syndrome, Congenital, Type IIA; CMS2A

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

...both mouse and human orthologous genes.

...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
Chrne^tm2Vwi/Chrne^tm2Vwi		involves: 129P2/OlaHsd * C57BL/6	J:182046

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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