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Human Disease and Mouse Model Detail
Human Disease

Term: Williams-Beuren Syndrome; WBS
OMIM ID: 194050

Synonyms Chromosome 7q11.23 Deletion Syndrome, 1.5- to 1.8-Mb; Williams Syndrome; WMS; WS
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...
     
Baz1b BAZ1B
Clip2 CLIP2
Dlg4 DLG4
Eif4h EIF4H
Fzd9 FZD9
Gtf2i GTF2I
Gtf2ird1 GTF2IRD1
Limk1 LIMK1
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Eln ELN
Mlxipl MLXIPL
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Transgenes and
other mutation types
Del(5Gtf2i-Limk1)1Uta   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Del(5Limk1-Trim50)2Uta

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.1
Baz1bMommeD10/Baz1b+   involves: FVB/N J:142335
Baz1bMommeD10/Baz1bMommeD10   involves: FVB/N J:142335
Baz1btm1Ska/Baz1b+   involves: C57BL/6 * CBA J:149990
Baz1btm1Ska/Baz1btm1Ska   involves: C57BL/6 * CBA J:149990
Clip2tm1.1Gal/Clip2+   involves: 129P2/OlaHsd * C57BL/6 J:78711
Dlg4tm2.1Grnt/Dlg4tm2.1Grnt   involves: 129P2/OlaHsd * C57BL/6J J:175436
Eif4hGt(Ex279)Byg/Eif4hGt(Ex279)Byg   involves: 129P2/OlaHsd * C57BL/6 J:181945
Fzd9tm1Sjp/Fzd9tm1Sjp   involves: C57BL/6J J:99893
Fzd9tm1Uta/Fzd9+   involves: 129X1/SvJ J:169924
Gtf2iGt(XE029)Byg/Gtf2i+   involves: 129P2/OlaHsd * C57BL/6 J:143508
Gtf2ird1Gt(XE465)Byg/Gtf2ird1+   involves: 129P2/OlaHsd * C57BL/6 J:143508
Gtf2ird1Tg(Alb1-Myc)166.8Sst/Gtf2ird1Tg(Alb1-Myc)166.8Sst   involves: C57BL/6J * CBA/J J:190478
Gtf2ird1Tg(Alb1-Myc)166.8Sst/Gtf2ird1Tg(Alb1-Myc)166.8Sst   involves: C57BL/6 * CBA J:102709
Gtf2ird1tm1Hrd/Gtf2ird1tm1Hrd   involves: 129S1/Sv * 129X1/SvJ * C57BL/6J J:182346
Limk1tm1Zpj/Limk1tm1Zpj   involves: 129/Sv J:86283
Models involving transgenes or other mutation types.2
Del(5Gtf2i-Limk1)1Uta/Del(5Limk1-Trim50)2Uta   involves: 129S7/SvEvBrd * C57BL/6J J:182796
No similarity to the expected human disease phenotype was found.3
NOT Fzd9tm1Uta/Fzd9tm1Uta   involves: 129S6/SvEvTac * 129X1/SvJ J:98133

1Human genes are associated with this disease. Mouse model genotypes do not 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.
3One 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
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory