Human Disease and Mouse Model Detail

Human Disease

Term: Neuropathy, Congenital Hypomyelinating, Autosomal Recessive; CHN
OMIM ID: 605253

Synonyms

Charcot-Marie-Tooth Disease, Type 4E; CMT4E; Hypomyelination, Severe Congenital

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...

Egr2

EGR2

...both mouse and human orthologous genes.

Mpz

MPZ

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

Transgenes and
other mutation types

Tg(Mpz)80.2Wra

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 with phenotypic similarity to human disease where etiologies involve orthologs.¹
Egr2^tm1Jmi/Egr2^tm1Jmi		Not Specified	J:96641
Egr2^tm2Jmi/Egr2^tm2Jmi		B6.Cg-Egr2^tm2Jmi	J:145949
Models involving transgenes or other mutation types.²
Tg(Mpz)80.2Wra/0		involves: FVB/N	J:78758

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Models 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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