Phenotypes Associated with This Genotype

Genotype
MGI:6160485

• Allelic Composition: Eif2b4^tm1.1Vdk/Eif2b4^tm1.1Vdk; 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

lethality at weaning ( J:234659 )

• mice survive less than 3 weeks

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

ectopic Bergmann glia cells ( J:234659 )

• almost all Bergmann glia in P21 mice are mislocalized to the molecular layer of the cerebellar cortex and are GFAPdelta-immunopositive

decreased oligodendrocyte number ( J:234659 )

• the number of mature oligodendrocytes is deceased

• however, oligodendrocyte morphology is normal

increased oligodendrocyte progenitor number ( J:234659 )

• white matter contains increased oligodendrocyte progenitor cell numbers

abnormal cerebellum white matter morphology ( J:234659 )

• mice show vanishing white matter disease signs from P10

• vacuolization of the cerebellar white matter in P21 mice

abnormal forebrain morphology ( J:234659 )

• hyaluronan is increased in P21 old forebrain

brain vacuoles ( J:234659 )

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

abnormal myelination ( J:234659 )

• deficient myelin formation, maturation, and maintenance, and progressive myelin vacuolization

vision/eye

abnormal retina morphology ( J:234659 )

• mice show signs of retinal laminar disorganization at 3 weeks of age

• retinal changes include uneven margins of the inner and outer nuclear layers with a thinned inner plexiform layer, ectopic inner nuclear cells, and displaced granule cells from the outer nuclear layer to the photoreceptor layer

abnormal retina inner nuclear layer morphology ( J:234659 )

• uneven margins of the inner nuclear layer

thin retina inner plexiform layer ( J:234659 )

abnormal retina outer nuclear layer morphology ( J:234659 )

• uneven margins of the outer nuclear layer

cellular

ectopic Bergmann glia cells ( J:234659 )

• almost all Bergmann glia in P21 mice are mislocalized to the molecular layer of the cerebellar cortex and are GFAPdelta-immunopositive

decreased oligodendrocyte number ( J:234659 )

• the number of mature oligodendrocytes is deceased

• however, oligodendrocyte morphology is normal

increased oligodendrocyte progenitor number ( J:234659 )

• white matter contains increased oligodendrocyte progenitor cell numbers

homeostasis/metabolism

increased hyaluronic acid level ( J:234659 )

• hyaluronan is increased in P21 old forebrain

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