Human Disease and Mouse Model Detail

Human Disease

Term: Charcot-Marie-Tooth Disease, Type 4j; CMT4J
OMIM ID: 611228

Synonyms

Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j

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...

Fig4

FIG4

...both mouse and human orthologous genes.

Transgenes and
other mutation types

Tg(ACTB-Fig4*I41T)705Mm

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
Fig4^plt1/Fig4^plt1 Tg(ACTB-Fig4*I41T)705Mm/0		involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL	J:173446
Fig4^plt1/Fig4^plt1		involves: 129P2/OlaHsd * C3H * C57BL/6 * CAST/Ei * SJL	J:122737
Models involving transgenes or other mutation types.²
Fig4^plt1/Fig4^plt1 Tg(ACTB-Fig4*I41T)705Mm/0		involves: 129 * C3H * C57BL/6J * CAST/Ei * SJL	J:173446

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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