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Phenotypes Associated with This Genotype
Genotype
MGI:3840273
Allelic
Composition
E2f1tm1Njd/E2f1tm1Njd
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f1tm1Njd mutation (1 available); any E2f1 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system

reproductive system
• empty and degenerating tubules by 9 months becoming more obvious by 12 months
• interstitial cells are more numerous than normal at 2.5 months
• cell numbers remain stable or increase somewhat with age
• testis weights average 44% of controls and only 10% in most extreme instances
• seen between 9 and 15 months
• about 1/3 of tumors are found in the reproductive tract
• epididymal tumors between the ducts in space normally occupied by smooth muscle or connective tissue
• endometrial stroma sarcomas

endocrine/exocrine glands
• histology deteriorates with age
• decrease in overall size of the salivary gland complex with age
• notably, mucous cells of the sublingual gland appear normal
• abnormally large and swollen cell nuclei and many binucleate cells
• cells producing amylase are abnormal
• abnormally large and swollen cell nuclei and many binucleate cells
• abnormalities restricted to mucous cells
• serous cells are normal
• fewer mucous acini compared to serous acini despite an increase in the size of individual mucous cells
• cells with enlarged nuclei
• similar abnormalities to salivary glands
• cells with enlarged or doubled nuclei
• histology deteriorates with age
• decrease in size with age
• ratio of glucagon secreting to insulin secreting cells normal at 4 weeks of age
• ratio of glucagon secreting to insulin secreting cells elevated at 16 weeks
• ratio of alpha to beta cells is increased
• total beta cell area is reduced
• relative to body weight
• reduced cross-sectional area relative to body weight
• disproportionately greater reduction than body weight
• empty and degenerating tubules by 9 months becoming more obvious by 12 months
• interstitial cells are more numerous than normal at 2.5 months
• cell numbers remain stable or increase somewhat with age
• testis weights average 44% of controls and only 10% in most extreme instances
• seen between 9 and 15 months
• isolated islets release significantly reduced but nevertheless robust levels of insulin

growth/size/body
• body weight more or less normal up to 8.7 months (J:33099)
• considerable weight loss in 12-15 month old animals (J:33099)

neoplasm
• sarcomas are very metastatic
• up to 34% of homozygotes have tumors by 15 months of age
• develop between 12.5 and 16.5 months of age
• lymphoproliferative syndrome develops in a small number of females between 8 and 15 months
• often leads to death
• involves enlarged lymph nodes, splenomegaly, glomerulonephritis, anemia (hematocrits of 8-15%)
• about 1/3 of tumors are found in the reproductive tract
• epididymal tumors between the ducts in space normally occupied by smooth muscle or connective tissue
• endometrial stroma sarcomas

digestive/alimentary system
• similar abnormalities to salivary glands
• cells with enlarged or doubled nuclei
• histology deteriorates with age
• decrease in size with age
• histology deteriorates with age
• decrease in overall size of the salivary gland complex with age
• notably, mucous cells of the sublingual gland appear normal
• abnormally large and swollen cell nuclei and many binucleate cells
• cells producing amylase are abnormal
• abnormally large and swollen cell nuclei and many binucleate cells
• abnormalities restricted to mucous cells
• serous cells are normal
• fewer mucous acini compared to serous acini despite an increase in the size of individual mucous cells

vision/eye
• cells with enlarged nuclei

adipose tissue
• reduced total body fat mass
• impaired adipocyte differentiation

homeostasis/metabolism
• isolated islets release significantly reduced but nevertheless robust levels of insulin
• fasting glucose levels lower than in controls
• insulin levels do not increase in a glucose tolerance test
• fasting insulin levels lower than controls
• reduced glucose clearance in a glucose tolerance test

cellular
• impaired adipocyte differentiation


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
04/16/2024
MGI 6.23
The Jackson Laboratory