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Phenotypes Associated with This Genotype
Genotype
MGI:3582492
Allelic
Composition
E2f4tm1Lees/E2f4tm1Lees
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f4tm1Lees mutation (1 available); any E2f4 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most died within 3-4 days of birth, and more than 85% failed to reach weaning age due to increased susceptibility to bacterial infection, however treatment of mothers with antibiotics to inhibit bacterial infection resulted in normal lifespan

growth/size/body
• homozygous null mice rederived in a Pasteurella pneumontropica-free environment had highly atrophic nasal turbinates, characterized by a flat and unconvoluted structure
• nasal passages of homozygous null mice rederived in a Pasteurella pneumontropica-free environment contained pools of eosinophillic fluid suggestive of a proteinaceous exudates
• homozygous null mice rederived in a Pasteurella pneumontropica-free environment had a diffusely atrophic olfactory epithelium
• shortened and broadened snout with a characteristic bull-like appearance in adults
• shortened and broadened snout with a characteristic bull-like appearance in adults
• detected at E13.5, persisted throughout embryonic development and into adulthood in the small percentage of surviving mice
• birth weight was 20-30% lower than in wild-type and surviving adults consistently weighed 50-65% of controls

homeostasis/metabolism
• neonates were dehydrated

behavior/neurological
• showed degeneration of the intestinal tract that was consistent with starvation
• surviving mice emitted a chirping sound

digestive/alimentary system
• showed degeneration of the intestinal tract that was consistent with starvation

hematopoietic system
• increased number of reticulocytes and the presence of nucleated red blood cells indicate stress erythropoiesis in embryos and neonates but was not observed in adults
• fetal anemia (adults were not anemic)
• 2-3 fold increase in the number of fetal liver erythroid progenitors
• 20-30% decrease in number of red blood cells in the peripheral blood of adults
• 30-40% decrease in hematocrit in embryos, however normal in surviving adults
• presence of nucleated red blood cells in the peripheral blood in embryos
• erythrocytes varied in size at E16.5-E18.5
• embryos, neonates, and adults showed a high frequency of erythrocytes containing Howell-Jolly bodies, nuclear remnants leftover from improper enucleation
• increase in mean erythrocyte volume at E16.5-E18.5
• seen in adults due to general increase in the red blood cell size and not presence of aberrant red blood cell population
• increased number of reticulocytes in embryos and neonates but not in adults

immune system
• middle ear of neonates and surviving adults was completely obstructed by a purulent exudates
• nasal passages of neonates and surviving adults were completely obstructed by purulent exudates and contained high levels of macrophages and neutrophils
• high levels of Pasteurella pneumotropica in nasal passages and middle ear most likely due to craniofacial bone abnormalities that prevent the drainage of proteinaceous exudates and clearing of infectious agent
• homozygous null mice were almost fully viable when rederived in a Pasteurella pneumontropica-free environment or when mothers were treated with antibiotics

respiratory system
• homozygous null mice rederived in a Pasteurella pneumontropica-free environment had highly atrophic nasal turbinates, characterized by a flat and unconvoluted structure
• nasal passages of homozygous null mice rederived in a Pasteurella pneumontropica-free environment contained pools of eosinophillic fluid suggestive of a proteinaceous exudates
• homozygous null mice rederived in a Pasteurella pneumontropica-free environment had a diffusely atrophic olfactory epithelium
• nasal passages of neonates and surviving adults were completely obstructed by purulent exudates and contained high levels of macrophages and neutrophils

hearing/vestibular/ear
• middle ear cavities of homozygous null mice rederived in a Pasteurella pneumontropica-free environment contained pools of eosinophillic fluid suggestive of a proteinaceous exudates
• middle ear of neonates and surviving adults was completely obstructed by a purulent exudates

taste/olfaction
• homozygous null mice rederived in a Pasteurella pneumontropica-free environment had a diffusely atrophic olfactory epithelium

craniofacial
• homozygous null mice rederived in a Pasteurella pneumontropica-free environment had highly atrophic nasal turbinates, characterized by a flat and unconvoluted structure
• nasal passages of homozygous null mice rederived in a Pasteurella pneumontropica-free environment contained pools of eosinophillic fluid suggestive of a proteinaceous exudates
• homozygous null mice rederived in a Pasteurella pneumontropica-free environment had a diffusely atrophic olfactory epithelium
• shortened and broadened snout with a characteristic bull-like appearance in adults
• shortened and broadened snout with a characteristic bull-like appearance in adults

reproductive system
• analysis of adult mice in which mothers were treated with antibiotics to prevent bacterial infection and thus increase viability, indicated that 90% of females were sterile
• analysis of adult mice in which mothers were treated with antibiotics to prevent bacterial infection and thus increase viability, indicated that 80% of males were sterile

embryo
• detected at E13.5, persisted throughout embryonic development and into adulthood in the small percentage of surviving mice

skeleton
• homozygous null mice rederived in a Pasteurella pneumontropica-free environment had highly atrophic nasal turbinates, characterized by a flat and unconvoluted structure

integument
• subtle at E13.5 but striking by E15.5-E16.5 and at birth

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
otitis media DOID:10754 J:64193


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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory