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Human Disease and Mouse Model Detail
Human Disease

Term: Cowden Syndrome 1; CWS1
OMIM ID: 158350

Synonyms Cs; CD
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
Ptentm1.1Gle/Pten+   involves: 129S6/SvEvTac * Black Swiss * FVB/N J:158751
Ptentm1.2Mwst/Pten+   Not Specified J:158751
Ptentm1Hwu/Ptentm1Hwu
Tg(KRT14-cre)#Smr/0		 2 involves: 129S4/SvJae * C57BL/6J * SJL/J J:138927
Ptentm1Hwu/Ptentm1Hwu
Tg(Mx1-cre)1Cgn/0		 2 involves: 129S4/SvJae * C57BL/6 * CBA J:118329
Ptentm1Hwu/Ptentm1Hwu
Tg(MMTV-cre)4Mam/0		 2 involves: 129S4/SvJae * FVB J:78415
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
Ptentm2.1Gle/Pten+   involves: 129S6/SvEvTac * Black Swiss * FVB/N J:158751
Ptentm2Mak/Ptentm2Mak
Tg(Gfap-cre)1Sbk/0		 2 involves: 129P2/OlaHsd J:75500

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Conditionally targeted allele(s)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory