Phenotypes Associated with This Genotype

Genotype
MGI:5506904

• Allelic Composition: Pten^tm1Hwu/Pten^tm1Hwu; Tg(KRT14-cre)#Smr/0
• Genetic Background: FVB.Cg-Pten^tm1Hwu Tg(KRT14-cre)#Smr

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

integument

abnormal epidermal layer morphology ( J:199362 )

• marker analysis indicates a perturbed basal-to-suprabasal transition

hyperkeratosis ( J:199362 )

thick epidermis suprabasal layer ( J:199362 )

• expanded suprabasal layer as indicated by an increase in Keratin 10-postive cells

thick epidermis ( J:199362 )

• increase in the number of epidermal cell layers at 8 weeks of age

skin lesions ( J:199362 )

• progressive development of multiple dermal lesions after weaning

thick skin ( J:199362 )

• at 8 weeks of age

increased skin hamartoma incidence ( J:199362 )

• 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

increased skin papilloma incidence ( J:199362 )

• papillomatous lesions around the facial orifices, ears, and paws, with most associated with hyperkeratosis

neoplasm

increased skin hamartoma incidence ( J:199362 )

• 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

increased skin papilloma incidence ( J:199362 )

• 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