Human Disease and Mouse Model Detail

Human Disease

Term: Glycogen Storage Disease 0, Liver
OMIM ID: 240600

Synonyms

Gsd 0a; GSD0A; Hypoglycemia with Deficiency of Glycogen Synthetase in the Liver; Liver Glycogen Storage Disease 0; Liver Glycogen Synthase Deficiency

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...

Gys2

GYS2

...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
Gys2^tm1.1Pro/Gys2^tm1.1Pro Tg(Alb-cre)21Mgn/0	2	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * DBA	J:162043

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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