Human Disease and Mouse Model Detail

Human Disease

Term: Wiskott-Aldrich Syndrome; WAS
OMIM ID: 301000

Synonyms

Aldrich Syndrome; Eczema-Thrombocytopenia-Immunodeficiency Syndrome; Immunodeficiency 2; IMD2; Wiskott-Aldrich Syndrome 1; WAS1

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...

Was

WAS

...both mouse and human orthologous genes.

Foxp3

FOXP3

...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 disease where etiologies involve orthologs.¹
Was^tm1Sbs/Was^tm1Sbs		129S6/SvEvTac-Was^tm1Sbs/J	J:180407
Was^tm1Sbs/Was^tm1Sbs		either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * C57BL/6)	J:48836
Models with phenotypic similarity to human disease where etiologies are distinct.²
Foxp3^sf/Y		involves: 101/H * C3H/HeH * STOCK MR	J:10398

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not 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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