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Phenotypes Associated with This Genotype
Genotype
MGI:3582637
Allelic
Composition
E2f5tm1Dli/E2f5tm1Dli
Genetic
Background
either: (involves: 129S1/Sv * BALB/c) or (involves: 129S1/Sv * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
E2f5tm1Dli mutation (1 available); any E2f5 mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• health deteriorated after weaning, with most dying at a median age of 6 weeks although a small proportion survived for a few months

homeostasis/metabolism
• became dehydrated after weaning

behavior/neurological
• developed ataxic gait after weaning

nervous system
• severe with a destruction of the cerebral cortices
• severe with a destruction of the cerebral cortices
• the neuropil was frequently distended and torn
• the hippocampus, thalamus, midbrain, cerebellum, and medualla were generally preserved, although they were compressed
• developed within the first few days of life
• the ependymal lining of the lateral ventricles was disrupted at multiple sites
• became progressively dilated and were filled with bloody cerebrospinal fluid
• contained abundant electron lucent cells and an irregular and disorganized microvillus border
• moderately dilated while the fourth ventricle appeared normal
• much of the cerebral cortex was destroyed except for a thin rim composed of neural tissue and meningeal membranes
• necrosis accompanied the cortical atrophy

craniofacial
• exhibited enlarged, domed craniae by 3-4 weeks of age
• expanded calvarium

skeleton
• exhibited enlarged, domed craniae by 3-4 weeks of age
• expanded calvarium

cardiovascular system
• severe with a destruction of the cerebral cortices
• severe with a destruction of the cerebral cortices

integument
• developed ruffled coats after weaning

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hydrocephalus DOID:10908 OMIM:123155
OMIM:236600
OMIM:236635
OMIM:307000
OMIM:615219
J:47283


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
03/03/2020
MGI 6.15
The Jackson Laboratory