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Human Disease and Mouse Model Detail
Human Disease

Term: Homocysteinemia
OMIM ID: 603174

Synonyms Hyperhomocysteinemia
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...
     
Cbs CBS
Mthfr MTHFR
Mtrr MTRR
  mouse...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 diseases where etiology is unknown or involving genes where ortholog is unknown.1
Cbstm1Unc/Cbstm1Unc   involves: 129P2/OlaHsd * C57BL/6J J:23321
Cbstm1Unc/Cbs+   involves: 129P2/OlaHsd * C57BL/6J J:23321
Mthfrtm1Rzn/Mthfr+   involves: 129S1/Sv * 129X1/SvJ * BALB/c J:67779
Mthfrtm1Rzn/Mthfrtm1Rzn   involves: 129S1/Sv * 129X1/SvJ * BALB/c J:67779
MtrrGt(XG334)Byg/MtrrGt(XG334)Byg   B6.129P2-MtrrGt(XG334)Byg J:121477

1The causal human genes for this disease have not been identified. Genotypes may include cases where the mouse structural gene or the human ortholog has not been identified.
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory