Human Disease and Mouse Model Detail

Human Disease

Term: Immunodeficiency with Hyper-IgM, Type 1; HIGM1
OMIM ID: 308230

Synonyms

Hyper-Igm Immunodeficiency, X-Linked; XHIM; Hyper-Igm Syndrome 1; Hyper-Igm Syndrome; HIGM; IHIS

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...

Cd40lg

CD40LG

...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	Ref(s)
No similarity to the expected human disease phenotype was found.¹
NOT	Cd40^tm1Kik/Cd40^tm1Kik Traf3ip2^tm1.1Lix/Traf3ip2^tm1.1Lix		involves: 129 * 129P2/OlaHsd * BALB/c	J:93923
NOT	Cd40lg^tm1Flv/Cd40lg^tm1Flv		involves: 129S2/SvPas * C57BL/6	J:25010
NOT	Cd40lg^tm1Flv/Cd40lg^tm1Flv Tg(APPSWE)2576Kha/0		involves: 129S2/SvPas * C57BL/6 * SJL	J:80429
NOT	Cd40lg^tm1Imx/Y		involves: 129S2/SvPas * C57BL/6	J:21137

¹One 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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