Human Disease and Mouse Model Detail

Human Disease

Term: Glycogen Storage Disease IA
OMIM ID: 232200

Synonyms

Glucose-6-Phosphatase Deficiency; Glycogen Storage Disease I; GSD1; Gsd IA; GSD1A; Hepatorenal Form of Glycogen Storage Disease; Hepatorenal Glycogenosis; Von Gierke 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...

G6pc

G6PC

...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
G6pc^tm1Jyc/G6pc^tm1Jyc		involves: 129S4/SvJae	J:33212
G6pc^tm2.2Jyc/G6pc^tm2.2Jyc		involves:129S4/SvJae * 129S4/SvJaeSor * C57BL/6J * FVB/N	J:155990

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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