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Human Disease and Mouse Model Detail
Human Disease

Term: Adrenoleukodystrophy; ALD
OMIM ID: 300100

Synonyms Addison Disease and Cerebral Sclerosis; Adrenomyeloneuropathy; AMN; Bronze Schilder Disease; Melanodermic Leukodystrophy; Siemerling-Creutzfeldt Disease
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...
Abcd1 ABCD1
  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
Abcd1tm1Kan/Abcd1tm1Kan   involves: 129S1/Sv * 129X1/SvJ * C57BL/6J J:44812
Abcd1tm1Kan/Y   involves: 129S1/Sv * 129X1/SvJ * C57BL/6J J:44812
Abcd1tm1Kds/Abcd1tm1Kds   involves: 129/Sv * 129S4/SvJae * C57BL/6J J:75388
Abcd1tm1Kds/Y   involves: 129S4/SvJae * C57BL/6J J:94583
Abcd1tm1Kds/Abcd1tm1Kds   either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129/Sv * 129S4/SvJae * C57BL/6) J:42479
Abcd1tm1Kds/Y   either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129/Sv * 129S4/SvJae * C57BL/6) J:42479
Abcd1tm1Ymd/Abcd1tm1Ymd   involves: 129S/SvEv * C57BL/6J * DBA/2J J:40230
Abcd1tm1Ymd/Y   involves: 129S/SvEv * C57BL/6J * DBA/2J J:40230
No similarity to the expected human disease phenotype was found.2
NOT Acsbg1tm1Mld/Acsbg1tm1Mld   involves: 129S1/Sv * 129X1/SvJ * C57BL/6 J:150391

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

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