Human Disease and Mouse Model Detail

Human Disease

Term: Lymphoproliferative Syndrome, X-Linked, 1; XLP1
OMIM ID: 308240

Synonyms

Duncan Disease; Ebv Infection, Severe, Susceptibility To; EBVS; Epstein-Barr Virus Infection, Familial Fatal; Immunodeficiency 5; IMD5; Immunodeficiency, X-Linked Progressive Combined Variable; Infectious Mononucleosis, Severe, Susceptibility to; Lymphoproliferative Disease, X-Linked; XLPD; LYP; Purtilo Syndrome; XLP

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...

Sh2d1a

SH2D1A

...both mouse and human orthologous genes.

Xiap

XIAP

...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
Sh2d1a^tm1Cpt/Sh2d1a^tm1Cpt		B6.129S4-Sh2d1a^tm1Cpt	J:97388, J:97690
Sh2d1a^tm1Cpt/Sh2d1a^tm1Cpt		C.129S4-Sh2d1a^tm1Cpt	J:97388
Sh2d1a^tm1Cpt/Sh2d1a^tm1Cpt		involves: 129S4/SvJae * BALB/c	J:97756
Sh2d1a^tm1Cpt/Sh2d1a^tm1Cpt		involves: 129S4/SvJae * C57BL/6	J:97756
Sh2d1a^tm1Pls/Sh2d1a^tm1Pls		either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6)	J:70032

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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