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Phenotypes Associated with This Genotype
Genotype
MGI:3813525
Allelic
Composition
Ptentm1Hwu/Ptentm1Hwu
Tg(KRT14-cre)#Smr/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptentm1Hwu mutation (16 available); any Pten mutation (88 available)
Tg(KRT14-cre)#Smr mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 40% of mice survive weaning if littermate competition is removed and the weaning period is extended
• mice that survive weaning do not live beyond 250 days
• however, survival can be increased by treatment with rapamycin
• 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
• 12% of mice develop thyroid tumors with a follicular aspect
• 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
• mice develop multiple hyperproliferative skin lesions that range from mucocutaneous lesions to tumor formation
• mice develop papules around the nose, mouth and eyes

endocrine/exocrine glands
• 56% of mice develop multinodular goiters
• 12% of mice develop thyroid tumors with a follicular aspect
• in 80% of mice
• 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

integument
• in 80% of mice
• 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
• at 11 days, the hair shafts have a disheveled appearance unlike in heterozygous mice
• hair follicles are increased in size compared to in wild type mice
• facial and periauricular lesions involve hyperproliferation of the outer root sheath in the vibrissae
• papillomatous lesions of the skin exhibit hyperkeratosis and acanthosis through the face and body skin
• papillomatous lesions of the skin exhibit hyperkeratosis and acanthosis through the face and body skin
• at 6 days of age
• 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
• at 6 days of age
• mice develop multiple hyperproliferative skin lesions that range from mucocutaneous lesions to tumor formation
• 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


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
12/10/2024
MGI 6.24
The Jackson Laboratory