Human Disease and Mouse Model Detail

Human Disease

Term: Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked;
OMIM ID: 304790

Synonyms

Autoimmunity-Immunodeficiency Syndrome, X-Linked; Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea; Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked; Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy; IDDM-Secretory Diarrhea Syndrome; DMSD; IPEX; Polyendocrinopathy, Immune Dysfunction, and Diarrhea, X-Linked; XPID; X-Linked Autoimmunity-Allergic Dysregulation Syndrome; XLAAD

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...

Foxp3

FOXP3

...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
Foxp3^sf/Y		B6.Cg-Foxp3^sf	J:167802
Foxp3^sf/Y		either: 129Rl.Cg-Foxp3^sf or (involves: 101/Rl * C3Hf/Rl * STOCK MR)	J:66734

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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