Human Disease and Mouse Model Detail

Human Disease

Term: Glycogen Storage Disease V
OMIM ID: 232600

Synonyms

Gsd V; GSD5; Mcardle Disease; Muscle Glycogen Phosphorylase Deficiency; Myophosphorylase Deficiency; PYGM 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...

Hif1a

HIF1A

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Pygm

PYGM

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.¹
Hif1a^tm3Rsjo/Hif1a^tm3Rsjo Tg(Ckmm-cre)5Khn/?	2	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB	J:97761

¹Human genes are associated with this disease. Mouse model genotypes do not 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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