Human Disease and Mouse Model Detail

Human Disease

Term: Smith-Magenis Syndrome; SMS
OMIM ID: 182290

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...

Rai1

RAI1

...both mouse and human orthologous genes.

Transgenes and
other mutation types

Del(11Cops3-Gid4)2Jrl		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Del(11Cops3-Rnf112)1Jrl

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Rai1^tm1Jrl/Rai1⁺		involves: 129S/SvEvBrd * C57BL/6	J:98073
Rai1^tm1Jrl/Rai1⁺		B6.129S7-Rai1^tm1Jrl/J	J:164451
Models involving transgenes or other mutation types.²
Del(11Cops3-Gid4)2Jrl/+		involves: 129S7/SvEvBrd * C57BL/6	J:94405
Del(11Cops3-Rnf112)1Jrl/+		involves: 129S7/SvEvBrd * C57BL/6	J:83302

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Models involving transgenes or other mutation types may also appear in other sections of the table.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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