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Phenotypes Associated with This Genotype
Genotype
MGI:5517370
Allelic
Composition
Brca1tm1Bhk/Brca1+
Cdkn2ctm1Yxi/Cdkn2ctm1Yxi
Genetic
Background
C.129-Cdkn2ctm1Yxi Brca1tm1Bhk
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1tm1Bhk mutation (0 available); any Brca1 mutation (114 available)
Cdkn2ctm1Yxi mutation (1 available); any Cdkn2c mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• 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
• 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
• poorly differentiated carcinoma with squamous metaplasia

integument
• 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
• 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
• poorly differentiated carcinoma with squamous metaplasia

neoplasm
• 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
• poorly differentiated carcinoma with squamous metaplasia
• 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


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
11/12/2024
MGI 6.24
The Jackson Laboratory