Human Disease and Mouse Model Detail

Human Disease

Term: Hypertrophic Neuropathy of Dejerine-Sottas
OMIM ID: 145900

Synonyms

Charcot-Marie-Tooth Disease, Type 3; CMT3; Dejerine-Sottas Neuropathy; DSN; Dejerine-Sottas Syndrome; DSS; Hereditary Motor and Sensory Neuropathy Type III; HMSN3

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...

Mpz

MPZ

...both mouse and human orthologous genes.

Egr2	EGR2
Pmp22	PMP22
Prx	PRX

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

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Mpz^tm1Msch/Mpz^tm1Msch		involves: 129S7/SvEvBrd	J:42838

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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