Human Disease and Mouse Model Detail

Human Disease

Term: Muscular Dystrophy, Duchenne Type; DMD
OMIM ID: 310200

Synonyms

Duchenne Muscular Dystrophy; Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type

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...

Dmd

DMD

...both mouse and human orthologous genes.

Barx2	BARX2
Dtna	DTNA
Foxk1	FOXK1
Itga7	ITGA7
Myod1	MYOD1
Sspn	SSPN
Terc	TERC
Utrn	UTRN

...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	Ref(s)
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Barx2^tm1Rsd/Barx2^tm1Rsd Dmd^mdx/Dmd^mdx		involves: 129 * C57BL/6 * C57BL/10ScSn	J:187799
Barx2^tm1Rsd/Barx2^tm1Rsd Dmd^mdx/Y		involves: 129 * C57BL/6 * C57BL/10ScSn	J:187799
Dmd^{Gt(ROSABetageo)1Mpd}/Y		involves: 129S1/Sv	J:47968
Dmd^mdx-3Cv/Y		involves: C3H/HeHa * C57BL/6Ros * C57BL/10Sn * M. m. castaneus * M. m musculus	J:23375
Dmd^mdx-5Cv/Dmd^mdx-5Cv		B6Ros.Cg-Dmd^mdx-5Cv/J	J:124861
Dmd^mdx-5Cv/Y		B6Ros.Cg-Dmd^mdx-5Cv	J:177391
Dmd^mdx/Y Terc^tm1Rdp/Terc^tm1Rdp		involves: 129/Sv * C57BL/6J * C57BL/10ScSn * SJL	J:167294
Dmd^mdx/Y		C57BL/10ScSn-Dmd^mdx	J:177391
Dmd^mdx/? Myod1^tm1Jae/Myod1^tm1Jae		involves: 129S4/SvJae * C57BL/10ScSn	J:52248
Dmd^mdx/Y		C57BL/10ScSnJ	J:7361
Dmd^mdx/Y Dtna^tm1Jrs/Dtna^tm1Jrs		involves: 129X1/SvJ * C57BL/10ScSn	J:59675
Dmd^mdx/Y Dtna^tm1Jrs/Dtna^tm1Jrs Utrn^tm1Jrs/Utrn^tm1Jrs		involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn	J:59675
Dmd^mdx/Dmd^mdx Foxk1^tm1Djg/Foxk1^tm1Djg		involves: 129S4/SvJae * C57BL/10ScSn	J:62225
Dmd^mdx/Dmd^mdx		C57BL/10ScSnJ	J:7361
Dmd^mdx/Dmd^mdx Utrn^tm1Ked/Utrn^tm1Ked		involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/10ScSn * DBA	J:42388
Dmd^mdx/Dmd^mdx Utrn^tm1Jrs/Utrn^tm1Jrs		involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn	J:42389, J:59675
Dmd^mdx/Y Foxk1^tm1Djg/Foxk1^tm1Djg		involves: 129S4/SvJae * C57BL/10ScSn	J:62225
Dmd^tm1.1Khan/Y		involves: C57BL/6 * CBA	J:96210
Dmd^tm1Mok/Y		involves: 129S/SvEv	J:43164
Models with phenotypic similarity to human disease where etiologies are distinct.²
Itga7^tm1Burk/Itga7^tm1Burk Sspn^tm1Kcam/Sspn^tm1Kcam		involves: 129S1/Sv * 129X1/SvJ	J:187752

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not 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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