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Human Disease and Mouse Model Detail
Human Disease

Term: Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia; IBMPFD
OMIM ID: 167320

Synonyms Lower Motor Neuron Degeneration with Paget-Like Bone Disease; Muscular Dystrophy, Limb-Girdle, with Paget Disease of Bone; Pagetoid Amyotrophic Lateral Sclerosis; Pagetoid Neuroskeletal Syndrome
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...
Vcp VCP
  mousehuman...both mouse and human orthologous genes.
     
Transgenes and
other mutation types
Tg(CAG-VCP*A232E)93Jpat   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(CAG-VCP*R155H)55Jpat

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Vcptm1Itl/Vcp+   B6.129S-Vcptm1Itl J:166320
Models involving transgenes or other mutation types.2
Tg(CAG-VCP*A232E)93Jpat/0   involves: C57BL/6 * SJL J:158713
Tg(CAG-VCP*R155H)55Jpat/0   involves: C57BL/6 * SJL J:158713

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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory