Phenotypes Associated with This Genotype

Genotype
MGI:5517370

• Allelic Composition: Brca1^tm1Bhk/Brca1⁺; Cdkn2c^tm1Yxi/Cdkn2c^tm1Yxi
• Genetic Background: C.129-Cdkn2c^tm1Yxi Brca1^tm1Bhk

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

endocrine/exocrine glands

abnormal mammary gland morphology ( J:198018 )

♀ • mammary glands of virgin females show a decrease in the expansion of luminal progenitors seen in single Cdkn2c homozygotes to normal levels but show an increase in the expansion of basal/myoepithelial cells

increased mammary gland tumor incidence ( J:198018 )

♀ • 38% of mutants develop breast cancer before 1 year of age and 87% by 22 months of age

♀ • mammary tumors show high degree of heterogeneity, increased population of CK5+ cells, loss of wild-type allele of Brca1 in CK5+ tumor cells, ERalpha negativity and invasiveness and metastasis

♀ • mammary tumors are transformed from a luminal subtype that is seen in single Cdkn2c homozygotes into a basal-like subtype

increased mammary adenocarcinoma incidence ( J:198018 )

♀ • poorly differentiated carcinoma with squamous metaplasia

integument

abnormal mammary gland morphology ( J:198018 )

♀ • mammary glands of virgin females show a decrease in the expansion of luminal progenitors seen in single Cdkn2c homozygotes to normal levels but show an increase in the expansion of basal/myoepithelial cells

increased mammary gland tumor incidence ( J:198018 )

♀ • mammary tumors are transformed from a luminal subtype that is seen in single Cdkn2c homozygotes into a basal-like subtype

♀ • 38% of mutants develop breast cancer before 1 year of age and 87% by 22 months of age

♀ • mammary tumors show high degree of heterogeneity, increased population of CK5+ cells, loss of wild-type allele of Brca1 in CK5+ tumor cells, ERalpha negativity and invasiveness and metastasis

increased mammary adenocarcinoma incidence ( J:198018 )

♀ • poorly differentiated carcinoma with squamous metaplasia

neoplasm

increased mammary gland tumor incidence ( J:198018 )

♀ • 38% of mutants develop breast cancer before 1 year of age and 87% by 22 months of age

♀ • mammary tumors show high degree of heterogeneity, increased population of CK5+ cells, loss of wild-type allele of Brca1 in CK5+ tumor cells, ERalpha negativity and invasiveness and metastasis

♀ • mammary tumors are transformed from a luminal subtype that is seen in single Cdkn2c homozygotes into a basal-like subtype

increased mammary adenocarcinoma incidence ( J:198018 )

♀ • poorly differentiated carcinoma with squamous metaplasia

increased metastatic potential ( J:198018 )

• 4 of 13 (31%) mammary tumors metastasize to the lung and blood vessels after 1 year of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
breast cancer		DOID:1612	OMIM:114480	J:198018