Human Disease and Mouse Model Detail

Human Disease

Term: Charcot-Marie-Tooth Disease, Demyelinating, Type 1B; CMT1B
OMIM ID: 118200

Synonyms

Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B; Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked to Duffy; Charcot-Marie-Tooth Neuropathy, Type 1B; Hereditary Motor and Sensory Neuropathy IB; HMSN IB; Hereditary Motor and Sensory Neuropathy I; HMSN I; HMSN1; HMSN1B; Peroneal Muscular Atrophy

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.

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⁺		involves: 129S7/SvEvBrd	J:42838
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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