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Phenotypes Associated with This Genotype
Genotype
MGI:6160484
Allelic
Composition
Eif2b5tm1.1Vdk/Eif2b5tm1.1Vdk
Genetic
Background
involves: C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eif2b5tm1.1Vdk mutation (0 available); any Eif2b5 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die by 7-10 months of age

growth/size/body

behavior/neurological
• mice develop progressive gait ataxia
• mice show increased latency and an increased number of foot slips when traversing a narrow beam
• reduced grip strength at 5 months of age
• in an automated home cage, mice show longer arrests at 2 and 5 months of age and reduced activity per time interval with respect to dark/light phase at 5 months
• mice exhibit sporadic epileptic seizures

nervous system
• mice exhibit sporadic epileptic seizures
• mice develop an intermediate severity of vanishing white matter disease
• white matter shows perturbed myelination and progressive vacuolization without microglial activation from 5 months of age
• hyaluronan is increased in 7 month old forebrain
• 5 and 7 month old mice show an increased number of Bergmann glia mislocalized to the molecular layer of the cerebellar cortex that have abnormally oriented, thicker, and more intensely GFAPdelta-immunoreactive processes than wild-type
• white matter shows progressive vacuolization; vacuoles are surrounded by myelin strands indicating that they are intramyelinic
• white matter astrocytes are immature and have an abnormal morphology with abnormally blunt processes and intermediate filament composition
• the number of immature astrocytes is increased
• number of mature oligodendrocytes is decreased
• however, oligodendrocyte morphology is normal
• the corpus callosum shows decreased mean axonal diameter, with an increased percentage of small-caliber axons at 7 months of age
• white matter shows perturbed myelination, with vacuoles surrounded by myelin sheaths, and splitting occurring at the intraperiod line, indicating intramyelinic edema
• expression of myelin proteins is decreased, indicating that myelin deposition is deficient and myelin maturation is already delayed by P21 before clinical disease onset

vision/eye
• mice show signs of retinal laminar disorganization
• 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
• uneven margins of the inner nuclear layer
• uneven margins of the outer nuclear layer

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
leukoencephalopathy with vanishing white matter DOID:0060868 OMIM:603896
J:234659


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
10/15/2019
MGI 6.14
The Jackson Laboratory