Human Disease and Mouse Model Detail

Human Disease

Term: Bare Lymphocyte Syndrome, Type II
OMIM ID: 209920

Synonyms

Bare Lymphocyte Syndrome; BLS; BLS, Type II; Severe Combined Immunodeficiency, Hla Class Ii-Negative

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...

Ciita

CIITA

...both mouse and human orthologous genes.

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Ciita^tm1Ccum/Ciita^tm1Ccum		involves: 129S2/SvPas * C57BL/6J	J:31601
Ciita^tm2Wrth/Ciita^tm2Wrth		involves: 129P2/OlaHsd * C57BL/6	J:92170

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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