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Human Disease and Mouse Model Detail
Human Disease

Term: Glycine Encephalopathy; GCE
OMIM ID: 605899

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...
     
Slc6a9 SLC6A9
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Amt AMT
Gcsh GCSH
Gldc GLDC
  human...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
Slc6a9tm1Betz/Slc6a9tm1Betz   involves: 129P2/OlaHsd * C57BL/6 J:86624

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