Phenotypes Associated with This Genotype

Genotype
MGI:3813525

• Allelic Composition: Pten^tm1Hwu/Pten^tm1Hwu; Tg(KRT14-cre)#Smr/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * SJL/J

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

mortality/aging

decreased survivor rate ( J:138927 )

• 40% of mice survive weaning if littermate competition is removed and the weaning period is extended

premature death ( J:138927 )

• mice that survive weaning do not live beyond 250 days

• however, survival can be increased by treatment with rapamycin

postnatal lethality, incomplete penetrance ( J:138927 )

• mice die rapidly in the first few days of life

• however, lifespan can be increased if littermate competition is removed and the weaning period is extended

neoplasm

increased mammary gland tumor incidence ( J:138927 )

• 11% of mice exhibit thoracic and abdominal/inguinal mammary gland tumors

• mammary gland tumors exhibit prominent intraluminal and ductal proliferation

• mammary gland tumors ranged from fibroadenomas to adenocarcinomas and ductal carcinomas with dense hyaline collagen or dense fibrosis

increased mammary adenocarcinoma incidence ( J:138927 )

increased thyroid tumor incidence ( J:138927 )

• 12% of mice develop thyroid tumors with a follicular aspect

increased skin tumor incidence ( J:138927 )

• mice develop multiple hyperproliferative skin lesions that range from mucocutaneous lesions to tumor formation

increased skin papilloma incidence ( J:138927 )

• mice develop papules around the nose, mouth and eyes

endocrine/exocrine glands

enlarged thyroid gland ( J:138927 )

• 56% of mice develop multinodular goiters

abnormal nipple morphology ( J:138927 )

♀ • in 80% of mice

increased mammary gland tumor incidence ( J:138927 )

• 11% of mice exhibit thoracic and abdominal/inguinal mammary gland tumors

• mammary gland tumors exhibit prominent intraluminal and ductal proliferation

• mammary gland tumors ranged from fibroadenomas to adenocarcinomas and ductal carcinomas with dense hyaline collagen or dense fibrosis

increased mammary adenocarcinoma incidence ( J:138927 )

increased thyroid tumor incidence ( J:138927 )

• 12% of mice develop thyroid tumors with a follicular aspect

integument

abnormal nipple morphology ( J:138927 )

♀ • in 80% of mice

increased mammary gland tumor incidence ( J:138927 )

• 11% of mice exhibit thoracic and abdominal/inguinal mammary gland tumors

• mammary gland tumors exhibit prominent intraluminal and ductal proliferation

• mammary gland tumors ranged from fibroadenomas to adenocarcinomas and ductal carcinomas with dense hyaline collagen or dense fibrosis

increased mammary adenocarcinoma incidence ( J:138927 )

abnormal hair shaft morphology ( J:138927 )

• at 11 days, the hair shafts have a disheveled appearance unlike in heterozygous mice

enlarged hair follicles ( J:138927 )

• hair follicles are increased in size compared to in wild type mice

abnormal vibrissa follicle morphology ( J:138927 )

• facial and periauricular lesions involve hyperproliferation of the outer root sheath in the vibrissae

hyperkeratosis ( J:138927 )

• papillomatous lesions of the skin exhibit hyperkeratosis and acanthosis through the face and body skin

acanthosis ( J:138927 )

• papillomatous lesions of the skin exhibit hyperkeratosis and acanthosis through the face and body skin

flaky skin ( J:138927 )

• at 6 days of age

skin lesions ( J:138927 )

• mice develop multiple hyperproliferative skin lesions that range from mucocutaneous lesions to tumor formation

• facial and periauricular lesions involve hyperproliferation of the outer root sheath and vibrissae

• acral extremities areas exhibit verrucous and hyperkeratotic lesions also seen in the punctuate palmoplantar keratosis of the paws

• mice exhibit palmoplantar keratoses, acral keratosis and oral papules

• cutaneous lesions contain trichilemmomas

• however, rapamycin treatment reverses and prevents lesion formation

wrinkled skin ( J:138927 )

• at 6 days of age

increased skin tumor incidence ( J:138927 )

• mice develop multiple hyperproliferative skin lesions that range from mucocutaneous lesions to tumor formation

increased skin papilloma incidence ( J:138927 )

• mice develop papules around the nose, mouth and eyes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Cowden syndrome		DOID:6457	OMIM:PS158350	J:138927