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Human Disease and Mouse Model Detail
Human Disease

Term: Autoimmune Polyendocrine Syndrome, Type I; APS1
OMIM ID: 240300

Synonyms APS I; Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy; APECED; Autoimmune Polyglandular Syndrome, Type I; PGA I; Polyglandular Autoimmune Syndrome, Type I
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...
Aire AIRE
  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
Airetm1.1Doi/Airetm1.1Doi   NOD.129S2(B6)-Airetm1.1Doi/Doi J:107432
Airetm1.1Doi/Airetm1.1Doi   C.129S2-Airetm1.1Doi/Doi J:107432
Airetm1.1Doi/Airetm1.1Doi   involves: 129S2/SvPas * C57BL/6 J:83422
Airetm1.1Doi/Airetm1.1Doi   B6.129S2-Airetm1.1Doi/Doi J:107432
Airetm1.1Doi/Airetm1.1Doi   SJL.129S2-Airetm1.1Doi/Doi J:107432
Airetm1Mmat/Airetm1Mmat   C.Cg-Airetm1Mmat J:96580
Airetm1Mmat/Airetm1Mmat   involves: C57BL/6 * CBA J:96580
Airetm1Mmat/Airetm1Mmat   B6.Cg-Airetm1Mmat J:96580
Airetm1Pltn/Airetm1Pltn   involves: 129S4/SvJae * C57BL/6 J:77873

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