Human Disease and Mouse Model Detail

Human Disease

Term: Facioscapulohumeral Muscular Dystrophy 1; FSHD1
OMIM ID: 158900

Synonyms

Facioscapulohumeral Muscular Dystrophy; FSHD; FMD; Muscular Dystrophy, Facioscapulohumeral, Type 1; Muscular Dystrophy, Facioscapulohumeral, Type 1A; FSHD1A

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...

Large

LARGE

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Frg1

FRG1

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

Transgenes and
other mutation types

Tg(ACTA1-Frg1)highRotu		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(ACTA1-Frg1)medRotu

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.¹
Large^myd/Large^myd		B6C3Fe a/a-Large^myd/J	J:27793
Models involving transgenes or other mutation types.²
Tg(ACTA1-Frg1)highRotu/0		C57BL/6-Tg(ACTA1-Frg1)highRotu	J:106896
Tg(ACTA1-Frg1)medRotu/0		C57BL/6-Tg(ACTA1-Frg1)medRotu	J:106896

¹Human genes are associated with this disease. Mouse model genotypes do not 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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