Human Disease and Mouse Model Detail

Human Disease

Term: Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 4; MDDGA4
OMIM ID: 253800

Synonyms

Fukuyama Congenital Muscular Dystrophy; FCMD; Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Fktn-Related

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...

Fktn

FKTN

...both mouse and human orthologous genes.

Myf5

MYF5

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

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Fktn^tm1.1Kcam/Fktn^tm1.1Kcam Tg(CAG-cre/Esr1*)5Amc/?	2	involves: 129S/SvEv * C57BL/6 * CBA	J:187144
Fktn^tm1.1Kcam/Fktn^tm1.1Kcam Tg(Ckmm-cre)5Khn/?	2	involves: 129S/SvEv * FVB	J:187144
Fktn^tm1.1Kcam/Fktn^tm1.1Kcam Myf5^tm3(cre)Sor/Myf5⁺	2	involves: 129S/SvEv * 129S4/SvJaeSor	J:187144
Fktn^tm1Ttd/Fktn^tm1Ttd		involves: 129S7/SvEvBrd * C57BL/6	J:97950
Fktn^tm1Ttd/Fktn^tm2(FCMD)Ttd		involves: 129S7/SvEvBrd	J:144746

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Conditionally targeted allele(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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