Phenotypes Associated with This Genotype

Genotype
MGI:6160487

• Allelic Composition: Eif2b4^tm1.1Vdk/Eif2b4⁺; Eif2b5^tm1.1Vdk/Eif2b5^tm1.1Vdk
• Genetic Background: involves: C57BL/6 * C57BL/6J

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

mortality/aging

premature death ( J:234659 )

• average lifespan is 4-5 months of age

growth/size/body

decreased body weight ( J:234659 )

behavior/neurological

ataxia ( J:234659 )

• mice develop progressive gait ataxia

sporadic seizures ( J:234659 )

• mice exhibit sporadic epileptic seizures

nervous system

sporadic seizures ( J:234659 )

• mice exhibit sporadic epileptic seizures

abnormal cerebellum white matter morphology ( J:234659 )

• mice exhibit vanishing white matter disease onset at 6 weeks of age

• vacuolization of the cerebellar white matter in 4 month old mice

brain vacuoles ( J:234659 )

• white matter shows vacuolization; vacuoles are surrounded by myelin strands indicating that they are intramyelinic

abnormal astrocyte morphology ( J:234659 )

• mice have abnormal white matter astrocytes from 4 months of age

abnormal axon morphology ( J:234659 )

• the corpus callosum shows decreased mean axonal diameter, with an increased percentage of small-caliber axons at 4 months of age

abnormal myelination ( J:234659 )

• 4 month old mice show a paucity of myelin with pronounced vacuolization in the white matter

• deficient myelin formation, maturation, and maintenance

vision/eye

abnormal retina morphology ( J:234659 )

• mice show signs of retinal laminar disorganization

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
leukoencephalopathy with vanishing white matter		DOID:0060868	OMIM:PS603896	J:234659