Human Disease and Mouse Model Detail

Human Disease

Term: Glycogen Storage Disease II
OMIM ID: 232300

Synonyms

Acid Alpha-Glucosidase Deficiency; Acid Maltase Deficiency; AMD; Alpha-1,4-Glucosidase Deficiency; Cardiomegalia Glycogenica Diffusa; GAA Deficiency; Glycogenosis, Generalized, Cardiac Form; Gsd II; GSD2; Pompe Disease

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...

Gaa

GAA

...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
Gaa^tm1.1Rabn/Gaa^tm1.1Rabn		involves: 129X1/SvJ * C57BL/6 * FVB/N	J:76435
Gaa^tm1Rabn/Gaa^tm1Rabn		involves: 129X1/SvJ * C57BL/6	J:48839, J:76435
Gaa^tm1Vdp/Gaa^tm1Vdp		either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * FVB)	J:45386
Gaa^tm2Rabn/Gaa^tm2Rabn		involves: 129X1/SvJ * C57BL/6	J:76435

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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