Human Disease and Mouse Model Detail

Human Disease

Term: Simpson-Golabi-Behmel Syndrome, Type 1; SGBS1
OMIM ID: 312870

Synonyms

Bulldog Syndrome; Dysplasia Gigantism Syndrome, X-Linked; DGSX; Golabi-Rosen Syndrome; SGBS; Simpson Dysmorphia Syndrome; SDYS

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...

Gpc3

GPC3

...both mouse and human orthologous genes.

H19

H19

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

GPC4

...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
Gpc3^Gt(Ex136)Byg/Y		involves: 129P2/OlaHsd * C57BL/6	J:64330
Gpc3^Gt(Ex136)Byg/Gpc3⁺		involves: 129P2/OlaHsd * C57BL/6	J:64330
Gpc3^tm1Arge/Y H19^tm1Tilg/H19⁺		involves: 129S/SvEv * 129S1/Sv	J:75054
Gpc3^tm1Arge/Y		either: (involves: 129S/SvEv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)	J:75054
Gpc3^tm1Fil/Y		B6.Cg-Gpc3^tm1Fil	J:73877
Gpc3^tm1Fil/Gpc3⁺		B6.Cg-Gpc3^tm1Fil	J:73877
Gpc3^tm1Snd/Gpc3⁺		involves: 129X1/SvJ * C57BL/6	J:64330
Gpc3^tm1Snd/Y		involves: 129X1/SvJ * C57BL/6	J:64330

¹Human genes are associated with this disease. Mouse model genotypes 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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