Human Disease and Mouse Model Detail

Human Disease

Term: Molybdenum Cofactor Deficiency
OMIM ID: 252150

Synonyms

MOCOD

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...

Gphn	GPHN
Mocs1	MOCS1

...both mouse and human orthologous genes.

Mocs2

MOCS2

...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 involve orthologs.¹
Gphn^tm1Jrs/Gphn^tm1Jrs		involves: 129S1/Sv * 129X1/SvJ	J:77775
Mocs1^tm1Jre/Mocs1^tm1Jre		involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	J:80807

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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