Human Disease and Mouse Model Detail

Human Disease

Term: Glycogen Storage Disease VII
OMIM ID: 232800

Synonyms

Gsd VII; GSD7; Muscle Phosphofructokinase Deficiency; PFKM Deficiency; Tarui 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...

Pfkm

PFKM

...both mouse and human orthologous genes.

Hif1a

HIF1A

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

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Pfkm^tm1Fbos/Pfkm^tm1Fbos		involves: 129S6/SvEvTac * C57BL/6J	J:152153
Models with phenotypic similarity to human disease where etiologies are distinct.²
Hif1a^tm3Rsjo/Hif1a^tm3Rsjo Tg(Ckmm-cre)5Khn/?	3	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB	J:97761

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
³Conditionally 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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