Human Disease and Mouse Model Detail

Human Disease

Term: Beckwith-Wiedemann Syndrome; BWS
OMIM ID: 130650

Synonyms

EMG Syndrome; Exomphalos-Macroglossia-Gigantism 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...

Cdkn1c

CDKN1C

...both mouse and human orthologous genes.

Sptbn1

SPTBN1

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

H19	H19
Igf2	IGF2
Kcnq1	KCNQ1
Kcnq1ot1	KCNQ1OT1
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

Tg(YACW408A5)1952Ricc

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	Ref(s)
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Cdkn1c^tm1Sje/Cdkn1c^tm1Sje			involves: 129S7/SvEvBrd * C57BL/6	J:40203
Models with phenotypic similarity to human disease where etiologies are distinct.²
Sptbn1^tm1Mish/Sptbn1⁺			involves: 129S6/SvEvTac	J:166879
Models involving transgenes or other mutation types.³
Tg(YACW408A5)1952Ricc/0			involves: 129/Sv * SD7	J:96366
No similarity to the expected human disease phenotype was found.⁴
NOT	Cdkn1c^tm1Bbd/Cdkn1c^tm1Bbd		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:40142
NOT	Cdkn1c^tm1Kat/Cdkn1c^tm1Kat		involves: 129P2/OlaHsd * C57BL/6	J:61190
NOT	Kcnq1^tm1Apf/Kcnq1^tm1Apf		involves: 129P2/OlaHsd * C57BL/6	J:66428

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.
³Models involving transgenes or other mutation types may also appear in other sections of the table.
⁴One 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
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 04/03/2013 MGI 5.12