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Human Disease and Mouse Model Detail
Human Disease

Term: Noonan Syndrome 1; NS1
OMIM ID: 163950

Synonyms Female Pseudo-Turner Syndrome; Male Turner Syndrome; Noonan 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...
Ptpn11 PTPN11
  mousehuman...both mouse and human orthologous genes.
     
Transgenes and
other mutation types
Tg(CAG-cat,-Ptpn11*Q97R)1Rbns   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(Myh7-Ptpn11*Q79R)11Rbns

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Ptpn11tm1Bgn/Ptpn11+   involves: 129S4/SvJae * C57BL/6J J:91609
Models involving transgenes or other mutation types.2
Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0
Tg(Wnt1-cre)11Rth/0
4 involves: C57BL/6J * CBA/J * FVB/N J:153094
Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0
Tg(Tek-cre)12Flv/0
4 involves: C3H * C57BL/6 * FVB/N J:142212
Tg(Myh7-Ptpn11*Q79R)11Rbns/0   FVB.Cg-Tg(Myh7-Ptpn11*Q79R)11Rbns J:123963
No similarity to the expected human disease phenotype was found.3
NOT Ptpn11tm1Paw/Ptpn11tm1Paw   involves: 129S1/Sv * 129X1/SvJ * CD-1 J:43740
NOT Ptpn11tm1Rbn/Ptpn11+   involves: 129 * Black Swiss J:35137
NOT Ptpn11tm1Rbn/Ptpn11tm1Rbn   involves: 129 * Black Swiss J:35137

1Human genes are associated with this disease. Mouse model genotypes 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.
4Conditionally 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