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Phenotypes Associated with This Genotype
Genotype
MGI:6160487
Allelic
Composition
Eif2b4tm1.1Vdk/Eif2b4+
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 (25 available)
Eif2b5tm1.1Vdk mutation (0 available); any Eif2b5 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• average lifespan is 4-5 months of age

growth/size/body

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

nervous system
• mice exhibit sporadic epileptic seizures
• mice exhibit vanishing white matter disease onset at 6 weeks of age
• vacuolization of the cerebellar white matter in 4 month old mice
• white matter shows vacuolization; vacuoles are surrounded by myelin strands indicating that they are intramyelinic
• mice have abnormal white matter astrocytes from 4 months of age
• the corpus callosum shows decreased mean axonal diameter, with an increased percentage of small-caliber axons at 4 months of age
• 4 month old mice show a paucity of myelin with pronounced vacuolization in the white matter
• deficient myelin formation, maturation, and maintenance

vision/eye
• 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: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
02/12/2019
MGI 6.13
The Jackson Laboratory