Human Disease and Mouse Model Detail

Human Disease

Term: Charcot-Marie-Tooth Disease, Axonal, Type 2A2; CMT2A2
OMIM ID: 609260

Synonyms

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2; Charcot-Marie-Tooth Disease, Neuronal, Type 2A2; Charcot-Marie-Tooth Neuropathy, Type 2A2; Hereditary Motor and Sensory Neuropathy Iia2; HMSN2A2; HMSN IIA2

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...

Mfn2

MFN2

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Transgenes and
other mutation types

Tg(Eno2-MFN2*R94Q)L51Ugfm

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models involving transgenes or other mutation types.¹
Tg(Eno2-MFN2R94Q)L51Ugfm/Tg(Eno2-MFN2R94Q)L51Ugfm		involves: C57BL/6 * C57BL/6J * DBA/2	J:158936

¹Models 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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