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Human Disease and Mouse Model Detail
Human Disease

Term: Charcot-Marie-Tooth Disease, Axonal, Type 2a1; CMT2A1
OMIM ID: 118210

Synonyms Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A1; Charcot-Marie-Tooth Disease, Neuronal, Type 2A1; Charcot-Marie-Tooth Neuropathy, Type 2A1; Hereditary Motor and Sensory Neuropathy Iia1; HMSN2A1; HMSN IIA1
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...
Kif1b KIF1B
  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
Kif1btm1Noh/Kif1b+   involves: 129S4/SvJae * C57BL/6J J:69772

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