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Phenotypes Associated with This Genotype
Genotype
MGI:5506904
Allelic
Composition
Ptentm1Hwu/Ptentm1Hwu
Tg(KRT14-cre)#Smr/0
Genetic
Background
FVB.Cg-Ptentm1Hwu Tg(KRT14-cre)#Smr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptentm1Hwu mutation (16 available); any Pten mutation (81 available)
Tg(KRT14-cre)#Smr mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• marker analysis indicates a perturbed basal-to-suprabasal transition
• expanded suprabasal layer as indicated by an increase in Keratin 10-postive cells
• increase in the number of epidermal cell layers at 8 weeks of age
• progressive development of multiple dermal lesions after weaning
• at 8 weeks of age
• multiple cutaneous hamartomas are seen all over the body within 12 weeks of age
• median onset of disease is 62 days
• mice treated with BKM120, a pan-class I PI3K inhibitor, beginning at 3 weeks of age, do not develop PTEN hamartoma tumor syndrome skin lesions; removal of BKM120 results in development of lesions, indicating that continuous treatment is required
• mice with advanced multiple skin hamartomas treated with BKM120 show improved skin conditions
• papillomatous lesions around the facial orifices, ears, and paws, with most associated with hyperkeratosis

neoplasm
• multiple cutaneous hamartomas are seen all over the body within 12 weeks of age
• median onset of disease is 62 days
• mice treated with BKM120, a pan-class I PI3K inhibitor, beginning at 3 weeks of age, do not develop PTEN hamartoma tumor syndrome skin lesions; removal of BKM120 results in development of lesions, indicating that continuous treatment is required
• mice with advanced multiple skin hamartomas treated with BKM120 show improved skin conditions
• papillomatous lesions around the facial orifices, ears, and paws, with most associated with hyperkeratosis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Cowden syndrome DOID:6457 OMIM:PS158350
J:199362


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory