Phenotypes Associated with This Genotype

Genotype
MGI:3582637

• Allelic Composition: E2f5^tm1Dli/E2f5^tm1Dli
• Genetic Background: either: (involves: 129S1/Sv * BALB/c) or (involves: 129S1/Sv * C57BL/6)

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

mortality/aging

premature death ( J:47283 )

• 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

dehydration ( J:47283 )

• became dehydrated after weaning

behavior/neurological

ataxia ( J:47283 )

• developed ataxic gait after weaning

nervous system

intracerebral hemorrhage ( J:47283 )

• severe with a destruction of the cerebral cortices

intraventricular hemorrhage ( J:47283 )

• severe with a destruction of the cerebral cortices

abnormal nervous system morphology ( J:47283 )

• the neuropil was frequently distended and torn

abnormal brain morphology ( J:47283 )

• the hippocampus, thalamus, midbrain, cerebellum, and medualla were generally preserved, although they were compressed

non-obstructive hydrocephaly ( J:47283 )

• developed within the first few days of life

abnormal brain ependyma morphology ( J:47283 )

• the ependymal lining of the lateral ventricles was disrupted at multiple sites

dilated lateral ventricle ( J:47283 )

• became progressively dilated and were filled with bloody cerebrospinal fluid

abnormal choroid plexus morphology ( J:47283 )

• contained abundant electron lucent cells and an irregular and disorganized microvillus border

dilated third ventricle ( J:47283 )

• moderately dilated while the fourth ventricle appeared normal

abnormal cerebral cortex morphology ( J:47283 )

• 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

abnormal neurocranium morphology ( J:47283 )

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

enlarged neurocranium ( J:47283 )

• expanded calvarium

skeleton

abnormal neurocranium morphology ( J:47283 )

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

enlarged neurocranium ( J:47283 )

• expanded calvarium

cardiovascular system

intracerebral hemorrhage ( J:47283 )

• severe with a destruction of the cerebral cortices

intraventricular hemorrhage ( J:47283 )

• severe with a destruction of the cerebral cortices

integument

ruffled hair ( J:47283 )

• 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