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Human Disease and Mouse Model Detail
Human Disease

Term: Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency
OMIM ID: 251000

Synonyms Methylmalonic Acidemia Due to Methylmalonyl-Coa Mutase Deficiency Mma Due to Mcm 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...
Mut MUT
  mousehuman...both mouse and human orthologous genes.
     
Transgenes and
other mutation types
Tg(MUT)AHlps   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(MUT*R403X)#Hlps

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Muttm1Cpv/Muttm1Cpv   Not Specified J:147338
Muttm1Pai/Muttm1Pai   involves: 129S1/Sv * C57BL/6 J:87081
Muttm1Pai/Muttm1Pai
Tg(MUT)AHlps/0
Tg(MUT*R403X)#Hlps/0
  involves: 129S1/Sv * C57BL/6 J:191879
Muttm1Pai/Muttm1Pai
Tg(MUT*R403X)#Hlps/0
  involves: 129S1/Sv * C57BL/6 J:191879
Models involving transgenes or other mutation types.2
Muttm1Pai/Muttm1Pai
Tg(MUT)AHlps/0
Tg(MUT*R403X)#Hlps/0
  involves: 129S1/Sv * C57BL/6 J:191879
Muttm1Pai/Muttm1Pai
Tg(MUT*R403X)#Hlps/0
  involves: 129S1/Sv * C57BL/6 J:191879

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Models involving transgenes or other mutation types may also appear in other sections of the table.

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