Phenotypes Associated with This Genotype

Genotype
MGI:5755852

• Allelic Composition: Pik3ca^tm1.1Waph/Pik3ca⁺; Tg(MMTV-cre)#Mam/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB

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

mortality/aging

premature death ( J:187299 )

♀ • nulliparous mice show a median tumor-free survival of 484 days, while biparous mice show a median tumor-free survival of 393 days

endocrine/exocrine glands

increased mammary gland epithelial cell proliferation ( J:187299 )

♀ • increase in proliferation within the multilayered epithelia of the mammary ducts

♀ • colony forming ability of the luminal progenitors is enhanced

abnormal mammary gland epithelium morphology ( J:187299 )

♀ • loss of polarity in the mammary gland epithelium

♀ • the luminal cell population (Lin-CD29loCD24+) and luminal progenitors (Lin-CD29loCD24+CD61+) are increased in 6 week old mice

abnormal mammary gland duct morphology ( J:187299 )

♀ • mammary gland ducts are dilated at both 6 and 12 weeks of age and the majority at 12 weeks are enlarged and show areas of multilayered epithelium which is hyperplastic in some regions and shows presence of an eosinophilic luminal secretion

♀ • 13 month old nulliparous and biparous mice show enlarged ducts, particularly in the nipple region of the biparous mice and small focal lesions

♀ • mammary glands of aged mice have ectatic ducts filled with eosinophilic luminal secretions

abnormal branching of the mammary ductal tree ( J:187299 )

♀ • mice show increased secondary and tertiary branching at 12 weeks of age

abnormal mammary duct terminal end bud morphology ( J:187299 )

♀ • mice show increased number and size of invading mammary gland terminal end buds at 6 weeks

♀ • increase in proliferation within the terminal end buds

abnormal mammary gland myoepithelium morphology ( J:187299 )

♀ • anaplasia of basal cells in the mammary gland

♀ • colony forming ability of the stem cell enriched basal population is enhanced

abnormal mammary gland stroma morphology ( J:187299 )

♀ • ducts are surrounded by an increase in the number of stromal cells

increased mammary gland tumor incidence ( J:187299 )

♀ • nulliparous and biparous mice over 12 months of age develop mammary gland tumors, with tumor formation accelerated in biparous mice

♀ • however, no metastasis is seen

increased fibroadenoma incidence ( J:187299 )

♀ • 45% of tumors are benign fibroadenomas

increased mammary adenoacanthoma incidence ( J:187299 )

♀ • 10% of mammary tumors are adenosquamous carcinomas

cellular

increased mammary gland epithelial cell proliferation ( J:187299 )

♀ • increase in proliferation within the multilayered epithelia of the mammary ducts

♀ • colony forming ability of the luminal progenitors is enhanced

integument

increased mammary gland epithelial cell proliferation ( J:187299 )

♀ • increase in proliferation within the multilayered epithelia of the mammary ducts

♀ • colony forming ability of the luminal progenitors is enhanced

abnormal mammary gland epithelium morphology ( J:187299 )

♀ • loss of polarity in the mammary gland epithelium

♀ • the luminal cell population (Lin-CD29loCD24+) and luminal progenitors (Lin-CD29loCD24+CD61+) are increased in 6 week old mice

abnormal mammary gland duct morphology ( J:187299 )

♀ • mammary gland ducts are dilated at both 6 and 12 weeks of age and the majority at 12 weeks are enlarged and show areas of multilayered epithelium which is hyperplastic in some regions and shows presence of an eosinophilic luminal secretion

♀ • 13 month old nulliparous and biparous mice show enlarged ducts, particularly in the nipple region of the biparous mice and small focal lesions

♀ • mammary glands of aged mice have ectatic ducts filled with eosinophilic luminal secretions

abnormal branching of the mammary ductal tree ( J:187299 )

♀ • mice show increased secondary and tertiary branching at 12 weeks of age

abnormal mammary duct terminal end bud morphology ( J:187299 )

♀ • mice show increased number and size of invading mammary gland terminal end buds at 6 weeks

♀ • increase in proliferation within the terminal end buds

abnormal mammary gland myoepithelium morphology ( J:187299 )

♀ • anaplasia of basal cells in the mammary gland

♀ • colony forming ability of the stem cell enriched basal population is enhanced

abnormal mammary gland stroma morphology ( J:187299 )

♀ • ducts are surrounded by an increase in the number of stromal cells

increased mammary gland tumor incidence ( J:187299 )

♀ • nulliparous and biparous mice over 12 months of age develop mammary gland tumors, with tumor formation accelerated in biparous mice

♀ • however, no metastasis is seen

increased fibroadenoma incidence ( J:187299 )

♀ • 45% of tumors are benign fibroadenomas

increased mammary adenoacanthoma incidence ( J:187299 )

♀ • 10% of mammary tumors are adenosquamous carcinomas

skeleton

increased osteosarcoma incidence ( J:187299 )

♀ • 2.5% of tumors are osteosarcoma

neoplasm

increased mammary gland tumor incidence ( J:187299 )

♀ • nulliparous and biparous mice over 12 months of age develop mammary gland tumors, with tumor formation accelerated in biparous mice

♀ • however, no metastasis is seen

increased fibroadenoma incidence ( J:187299 )

♀ • 45% of tumors are benign fibroadenomas

increased mammary adenoacanthoma incidence ( J:187299 )

♀ • 10% of mammary tumors are adenosquamous carcinomas

increased sarcoma incidence ( J:187299 )

♀ • 42.5% of mammary tumors are carcinosarcomas or sarcomas

increased osteosarcoma incidence ( J:187299 )

♀ • 2.5% of tumors are osteosarcoma

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
breast cancer		DOID:1612	OMIM:114480	J:187299