Human Disease and Mouse Model Detail

Human Disease

Term: Charcot-Marie-Tooth Disease, Type 4b1; CMT4B1
OMIM ID: 601382

Synonyms

Charcot-Marie-Tooth Disease, Autosomal Recessive, with Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4B1; Charcot-Marie-Tooth Disease, Type 4b; CMT4B; Charcot-Marie-Tooth Neuropathy, Type 4B1

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...

Mtmr2

MTMR2

...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
Mtmr2^tm1.1Abol/Mtmr2^tm1.1Abol		involves: 129S2/SvPas	J:94373
Mtmr2^tm1Ueli/Mtmr2^tm1Ueli		involves: 129S6/SvEvTac * C57BL/6	J:104120

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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