Human Disease and Mouse Model Detail

Human Disease

Term: Charcot-Marie-Tooth Disease, Axonal, Type 2D; CMT2D
OMIM ID: 601472

Synonyms

Charcot-Marie-Tooth Disease, Neuronal, Type 2d; Charcot-Marie-Tooth Neuropathy, Type 2d

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...

Gars

GARS

...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
Gars^C201R/Gars⁺		involves: BALB/cAnN * C3H/HeH * C57BL/6J	J:149830, J:179811
Gars^Nmf249/Gars⁺		C57BL/6J-Gars^Nmf249/J	J:112221
Gars^Nmf249/Gars⁺		involves: C57BL/6J * CAST/Ei	J:179811

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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