Mouse Genome Informatics
cn
    Ptentm1Hwu/Ptentm1Hwu
Tg(KRT14-cre)#Smr/0

FVB.Cg-Ptentm1Hwu Tg(KRT14-cre)#Smr
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• 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
• at 8 weeks of age

tumorigenesis
• 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
OMIM IDRef(s)
Cowden Syndrome 1; CWS1 158350 J:199362
Phosphatase and Tensin Homolog; PTEN 601728 J:199362