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Phenotypes Associated with This Genotype
Genotype
MGI:6160485
Allelic
Composition
Eif2b4tm1.1Vdk/Eif2b4tm1.1Vdk
Eif2b5tm1.1Vdk/Eif2b5tm1.1Vdk
Genetic
Background
involves: C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eif2b4tm1.1Vdk mutation (0 available); any Eif2b4 mutation (26 available)
Eif2b5tm1.1Vdk mutation (0 available); any Eif2b5 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice survive less than 3 weeks

growth/size/body

behavior/neurological
• mice develop progressive gait ataxia
• mice exhibit sporadic epileptic seizures

nervous system
• mice exhibit sporadic epileptic seizures
• white matter contains increased oligodendrocyte progenitor cell numbers
• mice show vanishing white matter disease signs from P10
• vacuolization of the cerebellar white matter in P21 mice
• hyaluronan is increased in P21 old forebrain
• almost all Bergmann glia in P21 mice are mislocalized to the molecular layer of the cerebellar cortex and are GFAPdelta-immunopositive
• white matter shows vacuolization; vacuoles are surrounded by myelin strands indicating that they are intramyelinic
• the number of mature oligodendrocytes is deceased
• however, oligodendrocyte morphology is normal
• deficient myelin formation, maturation, and maintenance, and progressive myelin vacuolization

vision/eye
• 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
• 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/13/2019
MGI 6.13
The Jackson Laboratory