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Human Disease and Mouse Model Detail
Human Disease

Term: Bannayan-Riley-Ruvalcaba Syndrome; BRRS
OMIM ID: 153480

Synonyms Bannayan-Zonana Syndrome; BZS; Macrocephaly, Multiple Lipomas, and Hemangiomata; Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata; Riley-Smith Syndrome; Ruvalcaba-Myhre-Smith Syndrome; RMSS
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...
Pten PTEN
  mousehuman...both mouse and human orthologous genes.
     

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Ptentm1Mak/Pten+   involves: 129P2/OlaHsd * C57BL/6J J:63478
Ptentm1Ppp/Pten+   involves: 129S1/Sv * C57BL/6J J:49532
Ptentm1Rps/Pten+   involves: 129S1/Sv * C57BL/6J J:53065

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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory