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Human Disease and Mouse Model Detail
Human Disease

Term: Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to
OMIM ID: 311250

Synonyms Ornithine Carbamoyltransferase 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...
Otc OTC
  mousehuman...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
Otcspf-ash/Y   Not Specified J:26977
Otcspf-ash/Y   B6EiC3Sn a/A-Otcspf-ash/J J:108979
Otcspf/Y   involves: C3H/HeJ * C57BL/6J J:31237
Otcspf/Y   involves: CD-1 J:784, J:19848, J:23195
Otcspf/Y   involves: C57BL/6 J:1966
Otcspf/Y   Not Specified J:7789, J:23017
Otcspf/Otcspf   involves: CD-1 J:784

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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory