Human Disease and Mouse Model Detail

Human Disease

Term: Autoimmune Lymphoproliferative Syndrome; ALPS
OMIM ID: 601859

Synonyms

Canale-Smith Syndrome

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...

Fas

FAS

...both mouse and human orthologous genes.

Fasl

FASLG

...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
Fas^lpr-cg/Fas^lpr-cg		CBA/KlJms-Fas^lpr-cg/J	J:24805, J:81770
Fas^lpr/Fas^lpr		MRL/Mp-Fas^lpr	J:28885
Fas^tm1Osa/Fas^tm1Osa		involves: 129P2/OlaHsd * C57BL/6	J:32125
Models with phenotypic similarity to human disease where etiologies are distinct.²
Fasl^gld/Fasl^gld		C3H/HeJ-Fasl^gld/J	J:7306, J:29572

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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