Human Disease and Mouse Model Detail

Human Disease

Term: Angelman Syndrome; AS
OMIM ID: 105830

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...

Ube3a

UBE3A

...both mouse and human orthologous genes.

Snrpn

SNRPN

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Cdkl5	CDKL5
Mecp2	MECP2

...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
Ube3a^tm1Alb/Ube3a⁺		involves: 129S7/SvEvBrd * C57BL/6J	J:190050
Ube3a^tm1Alb/Ube3a⁺		involves: 129S7/SvEvBrd * C57BL/6	J:50811
Ube3a^tm1Jwf/Ube3a⁺		B6.129S4-Ube3a^tm1Jwf	J:75622
Models with phenotypic similarity to human disease where etiologies are distinct.²
Snrpn^tm1Kaj/Snrpn⁺		either: 129S1-Snrpn^tm1Kaj or (involves: 129S1/Sv * C57BL/6J)	J:105412

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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