Human Disease and Mouse Model Detail

Human Disease

Term: Charcot-Marie-Tooth Disease, Type 4D; CMT4D
OMIM ID: 601455

Synonyms

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d; Charcot-Marie-Tooth Neuropathy, Type 4d; HMSN4D; Neuropathy, Hereditary Motor and Sensory, Lom Type; HMSNL

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...

Ndrg1

NDRG1

...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
Ndrg1^tm1Myta/Ndrg1^tm1Myta		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:89888

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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