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Human Disease and Mouse Model Detail
Human Disease

Term: Peutz-Jeghers Syndrome; PJS
OMIM ID: 175200

Synonyms Polyposis, Hamartomatous Intestinal; Polyps-And-Spots 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...
Stk11 STK11
  mousehuman...both mouse and human orthologous genes.
     
Amhr2 AMHR2
Trp53 TP53
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Amhr2tm3(cre)Bhr/Amhr2+
Stk11tm1Rdp/Stk11tm1Rdp
2 involves: 129S6/SvEvTac * C57BL/6 J:187754
Stk11tm1.1Jish/Stk11+   involves: 129S7/SvEvBrd * C57BL/6J J:77213
Stk11tm1.1Mlfr/Stk11+
Trp53tm1Tyj/Trp53+
  involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6J J:104347
Stk11tm1.1Mlfr/Stk11+   involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6J J:104347
Stk11tm1.1Rdp/Stk11tm1.1Rdp
Tg(Pdx1-cre)89.1Dam/0
2 involves: 129S6/SvEvTac * C57BL/6 * CBA * FVB/N * ICR J:134078
Stk11tm1.1Rdp/Stk11tm1.1Rdp
Tg(KRT14-cre)1Ipc/0
2 involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL J:131037
Stk11tm1.2Rdp/Stk11+   involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL J:78818, J:131037
Stk11tm1Tpm/Stk11+   involves: 129S7/SvEvBrd * C57BL/6 * CD-1 J:93361
Stk11tm1Tpm/Stk11+   Not Specified J:79074

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