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Human Disease and Mouse Model Detail
Human Disease

Term: Charcot-Marie-Tooth Disease, X-Linked Dominant, 1; CMTX1
OMIM ID: 302800

Synonyms Charcot-Marie-Tooth Neuropathy, X-Linked, 1; Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked; CMT2, Formerly; CMTX; Hereditary Motor and Sensory Neuropathy, X-Linked; HMSN, X-Linked
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...
Gjb1 GJB1
  mousehuman...both mouse and human orthologous genes.
     

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Gjb1tm1Kwi/Y   involves: 129S4/SvJae * C57BL/6 J:36146
Gjb1tm1Kwi/Gjb1tm1Kwi   involves: 129S4/SvJae * C57BL/6 J:36146
Gjb1tm1Kwi/Gjb1tm1Kwi   involves: 129S4/SvJae J:40955
Gjb1tm1Kwi/Y   involves: 129S4/SvJae J:40955

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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory