Human Disease and Mouse Model Detail

Human Disease

Term: Sotos Syndrome 1; SOTOS1
OMIM ID: 117550

Synonyms

Cerebral Gigantism; Chromosome 5q35 Deletion Syndrome; Sotos 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...

Nsd1

NSD1

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Transgenes and
other mutation types

Del(13Simc1-B4galt7)2Dja

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background
Models involving transgenes or other mutation types.¹
Del(13Simc1-B4galt7)2Dja/+			involves: 129P2/OlaHad * 129S7/SvEvBrd * C57BL/6J	J:190741
No similarity to the expected human disease phenotype was found.²
NOT	Nsd1^tm1.1Pcn/Nsd1^tm1.1Pcn		involves: 129/Sv * C57BL/6	J:83923

¹Models involving transgenes or other mutation types may also appear in other sections of the table.
²One 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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