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Human Disease and Mouse Model Detail
Human Disease

Term: Charcot-Marie-Tooth Disease, Demyelinating, Type 1A; CMT1A
OMIM ID: 118220

Synonyms Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1A; Charcot-Marie-Tooth Neuropathy, Type 1A; Hereditary Motor and Sensory Neuropathy IA; HMSN IA; HMSN1A
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...
Pmp22 PMP22
  mousehuman...both mouse and human orthologous genes.
     
Transgenes and
other mutation types
Tg(Pmp22)247Ueli   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(PMP22)C22Clh
Tg(PMP22)C61Clh

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Pmp22Tr-J/Pmp22+   involves: C57BL/6 J:3394, J:98231
Pmp22Tr-J/Pmp22+   B6.Cg-Pmp22Tr-J Krt25Re/+ +/J J:3394, J:101812
Models involving transgenes or other mutation types.2
Tg(Pmp22)247Ueli/0   involves: C3H * C57BL/6 J:98118
Tg(PMP22)C22Clh/0   involves: C57BL/6 * CBA/Ca J:78221
Tg(PMP22)C61Clh/0   B6.Cg-Tg(PMP22)C61Clh J:158350

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Models involving transgenes or other mutation types may also appear in other sections of the table.

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