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Human Disease and Mouse Model Detail
Human Disease

Term: Glycogen Storage Disease IV
OMIM ID: 232500

Synonyms Amylopectinosis; Andersen Disease; Brancher Deficiency; GBE1 Deficiency; Glycogen Branching Enzyme Deficiency; Glycogenosis IV; Gsd IV; GSD4
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...
Gbe1 GBE1
  mousehuman...both mouse and human orthologous genes.
     

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Gbe1m1Yty/Gbe1m1Yty   C3HeB/FeJ-Gbe1m1Yty J:167233
Gbe1tm1.1Hoa/Gbe1tm1.1Hoa   involves: 129S7/SvEvBrd J:176889
Gbe1tm1Hoa/Gbe1tm1Hoa   involves: 129S7/SvEvBrd J:176889

1Human genes are associated with this disease. Mouse model genotypes 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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory