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Phenotypes Associated with This Genotype
Genotype
MGI:7834417
Allelic
Composition
Frmd3em1Zhaj/Frmd3em1Zhaj
Genetic
Background
C57BL/6J-Frmd3em1Zhaj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Frmd3em1Zhaj mutation (0 available); any Frmd3 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• mice begin to develop mammary tumors at 8 months of age, with a total tumor incidence of 65%
• all premalignant lesions contain mammary epithelia cells (MECs) with a luminal-to-basal change
• tumors have abundant blood vessels and adhere to surrounding tissues and have a typical invasive ductal carcinoma morphology
• approximately 70% of tumors show glandular differentiation with mild inflammation (type 1) and about 25% of tumors are grade 3 carcinomas (type 2) with syncytial growth, pushing border, large pleomorphic nuclei, conspicuous mitoses, and regions of necrosis, and a few poorly differentiated or metaplastic carcinomas
• all tumors exhibit heterogenous regions with squamous, papillary, giant cell, and glandular histological characteristics and are triple negative (ER-, PR-, and HER2-) and highly proliferative
• the type 1 tumors have lost luminal features and show triple-negative breast cancer phenotype
• type 2 tumors are most similar to claudin-low subtype

endocrine/exocrine glands
• expansion of mammary stem cells
• mammary epithelial cells generate an increased number and large size of mammospheres, indicating enhanced self-renewal ability of mammary stem cells
• estrogen receptor alpha and progesterone receptor levels are decreased in mammary glands at 8 weeks of age
• in early puberty (weeks 3 to 5), the mammary gland distribution area is increased but is similar to wild-type after this time in late puberty at week 8
• early puberty mammary glands show an increase in mammary stem cell basal/myoepithelial population and a decrease in luminal population and terminal end buds of mammary glands show a decreased number of CK8+ luminal cells and increased number of CK5+ basal cells at 5 weeks of age and increased CK5 and no CK8 expression in mammary gland branches at 8 weeks of age indicating expansion of basal cells and inhibition of luminal cell differentiation
• terminal end bud of mammary glands at 5 weeks of age show increased cell proliferation especially in the cap, indicating a transient fast-growing period in early puberty
• mice show impaired ductal complexity and a decreased number of primary and secondary mammary side branches such that by week 12, the mammary gland has no tertiary branches
• acinar formation during pregnancy is decreased in the mammary gland
• mammary gland shows inhibition of luminal cell differentiation with impaired luminal lineage formation resulting in loss of luminal identity and gain of basal properties
• all premalignant lesions contain mammary epithelia cells with a luminal-to-basal change
• mammary gland shows expansion of basal cells
• mice begin to develop mammary tumors at 8 months of age, with a total tumor incidence of 65%
• all premalignant lesions contain mammary epithelia cells (MECs) with a luminal-to-basal change
• tumors have abundant blood vessels and adhere to surrounding tissues and have a typical invasive ductal carcinoma morphology
• approximately 70% of tumors show glandular differentiation with mild inflammation (type 1) and about 25% of tumors are grade 3 carcinomas (type 2) with syncytial growth, pushing border, large pleomorphic nuclei, conspicuous mitoses, and regions of necrosis, and a few poorly differentiated or metaplastic carcinomas
• all tumors exhibit heterogenous regions with squamous, papillary, giant cell, and glandular histological characteristics and are triple negative (ER-, PR-, and HER2-) and highly proliferative
• the type 1 tumors have lost luminal features and show triple-negative breast cancer phenotype
• type 2 tumors are most similar to claudin-low subtype

integument
• expansion of mammary stem cells
• mammary epithelial cells generate an increased number and large size of mammospheres, indicating enhanced self-renewal ability of mammary stem cells
• estrogen receptor alpha and progesterone receptor levels are decreased in mammary glands at 8 weeks of age
• in early puberty (weeks 3 to 5), the mammary gland distribution area is increased but is similar to wild-type after this time in late puberty at week 8
• early puberty mammary glands show an increase in mammary stem cell basal/myoepithelial population and a decrease in luminal population and terminal end buds of mammary glands show a decreased number of CK8+ luminal cells and increased number of CK5+ basal cells at 5 weeks of age and increased CK5 and no CK8 expression in mammary gland branches at 8 weeks of age indicating expansion of basal cells and inhibition of luminal cell differentiation
• terminal end bud of mammary glands at 5 weeks of age show increased cell proliferation especially in the cap, indicating a transient fast-growing period in early puberty
• mice show impaired ductal complexity and a decreased number of primary and secondary mammary side branches such that by week 12, the mammary gland has no tertiary branches
• acinar formation during pregnancy is decreased in the mammary gland
• mammary gland shows inhibition of luminal cell differentiation with impaired luminal lineage formation resulting in loss of luminal identity and gain of basal properties
• all premalignant lesions contain mammary epithelia cells with a luminal-to-basal change
• mammary gland shows expansion of basal cells
• mice begin to develop mammary tumors at 8 months of age, with a total tumor incidence of 65%
• all premalignant lesions contain mammary epithelia cells (MECs) with a luminal-to-basal change
• tumors have abundant blood vessels and adhere to surrounding tissues and have a typical invasive ductal carcinoma morphology
• approximately 70% of tumors show glandular differentiation with mild inflammation (type 1) and about 25% of tumors are grade 3 carcinomas (type 2) with syncytial growth, pushing border, large pleomorphic nuclei, conspicuous mitoses, and regions of necrosis, and a few poorly differentiated or metaplastic carcinomas
• all tumors exhibit heterogenous regions with squamous, papillary, giant cell, and glandular histological characteristics and are triple negative (ER-, PR-, and HER2-) and highly proliferative
• the type 1 tumors have lost luminal features and show triple-negative breast cancer phenotype
• type 2 tumors are most similar to claudin-low subtype

reproductive system
• acinar formation during pregnancy is decreased in the mammary gland

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
triple-receptor negative breast cancer DOID:0060081 J:350496


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
12/17/2024
MGI 6.24
The Jackson Laboratory