Phenotypes Associated with This Genotype

Genotype
MGI:6296606

• Allelic Composition: Cdh1^tm1Jjon/Cdh1^tm1Jjon; Trp53^tm1Brn/Trp53^tm1Brn; Tg(Wap-cre)51Nki/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

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

endocrine/exocrine glands

abnormal mammary gland growth during pregnancy ( J:171765 )

♀ • mammary glands from females at day 14 of pregnancy show incomplete lobulo-alveolar development

♀ • as pregnancy progresses, the mammary gland fills with nonfunctional tissue resulting in complete disruption of the ductal structure at parturition

abnormal mammary gland duct morphology ( J:171765 )

♀ • mammary glands from females at day 14 of pregnancy show severe ectasia (dilated ducts)

♀ • however, mammary glands from virgin mice show no gross morphological abnormalities

abnormal mammary gland lobule morphology ( J:171765 )

♀ • mammary glands from females at day 14 of pregnancy show incomplete lobulo-alveolar development, with effects becoming more pronounced as pregnancy progresses

increased mammary gland tumor incidence ( J:171765 )

♀ • mice develop mammary tumors with a reduced tumor-free survival age of 194 days, with most tumors arising between 150 and 250 days of age

♀ • virgin females develop mammary tumors with identical incidence and latency as uniparous females

♀ • tumor spectrum, invasiveness and metastatic dissemination are similar in virgin and parous females

♀ • mice exhibit invasive mammary tumors which show phenotypic similarity to invasive lobular carcinoma and develop in high incidence multifocally in several mammary glands

♀ • most invasive lobular carcinomas are estrogen receptor negative

♀ • females also exhibit solid carcinoma/carcinosarcoma that predominantly show a mixed epithelial and mesenchymal or spindle-shaped cell morphology and show both expansive and invasive growth patterns

lactation failure ( J:171765 )

♀ • mice produce healthy newborns, however all pups fostered by them die before weaning due to starvation

integument

abnormal mammary gland growth during pregnancy ( J:171765 )

♀ • mammary glands from females at day 14 of pregnancy show incomplete lobulo-alveolar development

♀ • as pregnancy progresses, the mammary gland fills with nonfunctional tissue resulting in complete disruption of the ductal structure at parturition

abnormal mammary gland duct morphology ( J:171765 )

♀ • mammary glands from females at day 14 of pregnancy show severe ectasia (dilated ducts)

♀ • however, mammary glands from virgin mice show no gross morphological abnormalities

abnormal mammary gland lobule morphology ( J:171765 )

♀ • mammary glands from females at day 14 of pregnancy show incomplete lobulo-alveolar development, with effects becoming more pronounced as pregnancy progresses

increased mammary gland tumor incidence ( J:171765 )

♀ • mice develop mammary tumors with a reduced tumor-free survival age of 194 days, with most tumors arising between 150 and 250 days of age

♀ • virgin females develop mammary tumors with identical incidence and latency as uniparous females

♀ • tumor spectrum, invasiveness and metastatic dissemination are similar in virgin and parous females

♀ • mice exhibit invasive mammary tumors which show phenotypic similarity to invasive lobular carcinoma and develop in high incidence multifocally in several mammary glands

♀ • most invasive lobular carcinomas are estrogen receptor negative

♀ • females also exhibit solid carcinoma/carcinosarcoma that predominantly show a mixed epithelial and mesenchymal or spindle-shaped cell morphology and show both expansive and invasive growth patterns

lactation failure ( J:171765 )

♀ • mice produce healthy newborns, however all pups fostered by them die before weaning due to starvation

neoplasm

increased mammary gland tumor incidence ( J:171765 )

♀ • mice develop mammary tumors with a reduced tumor-free survival age of 194 days, with most tumors arising between 150 and 250 days of age

♀ • virgin females develop mammary tumors with identical incidence and latency as uniparous females

♀ • tumor spectrum, invasiveness and metastatic dissemination are similar in virgin and parous females

♀ • mice exhibit invasive mammary tumors which show phenotypic similarity to invasive lobular carcinoma and develop in high incidence multifocally in several mammary glands

♀ • most invasive lobular carcinomas are estrogen receptor negative

♀ • females also exhibit solid carcinoma/carcinosarcoma that predominantly show a mixed epithelial and mesenchymal or spindle-shaped cell morphology and show both expansive and invasive growth patterns

increased metastatic potential ( J:171765 )

♀ • 74% of females that present mammary tumors of about 1 cm show extensive local invasion and metastases to draining and distant lymph nodes

♀ • invasive lobular carcinoma cells are seen in skin, lungs, liver, gastrointestinal tract, pancreas, and spleen or are diffusely disseminated throughout the peritoneal cavity

♀ • several mice develop bone metastases

reproductive system

abnormal mammary gland growth during pregnancy ( J:171765 )

♀ • mammary glands from females at day 14 of pregnancy show incomplete lobulo-alveolar development

♀ • as pregnancy progresses, the mammary gland fills with nonfunctional tissue resulting in complete disruption of the ductal structure at parturition

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
invasive lobular carcinoma		DOID:3457		J:171765