All Phenotypes Eif2b5<tm1.1Vdk> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Eif2b5^tm1.1Vdk/Eif2b5^tm1.1Vdk	involves: C57BL/6 * C57BL/6J	MGI:6160484
cx2	Eif2b4^tm1.1Vdk/Eif2b4^tm1.1Vdk Eif2b5^tm1.1Vdk/Eif2b5^tm1.1Vdk	involves: C57BL/6 * C57BL/6J	MGI:6160485
cx3	Eif2b4^tm1.1Vdk/Eif2b4^tm1.1Vdk Eif2b5^tm1.1Vdk/Eif2b5⁺	involves: C57BL/6 * C57BL/6J	MGI:6160486
cx4	Eif2b4^tm1.1Vdk/Eif2b4⁺ Eif2b5^tm1.1Vdk/Eif2b5^tm1.1Vdk	involves: C57BL/6 * C57BL/6J	MGI:6160487

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

mortality/aging

premature death ( J:234659 )

• mice die by 7-10 months of age

growth/size/body

decreased body weight ( J:234659 )

behavior/neurological

ataxia ( J:234659 )

• mice develop progressive gait ataxia

impaired coordination ( J:234659 )

• mice show increased latency and an increased number of foot slips when traversing a narrow beam

decreased grip strength ( J:234659 )

• reduced grip strength at 5 months of age

abnormal locomotor activation ( J:234659 )

• 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

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 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

abnormal forebrain morphology ( J:234659 )

• hyaluronan is increased in 7 month old forebrain

ectopic Bergmann glia cells ( J:234659 )

• 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

brain vacuoles ( J:234659 )

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

abnormal astrocyte morphology ( J:234659 )

• 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

decreased oligodendrocyte number ( J:234659 )

• number of mature oligodendrocytes is decreased

• however, oligodendrocyte morphology is normal

abnormal axon morphology ( J:234659 )

• the corpus callosum shows decreased mean axonal diameter, with an increased percentage of small-caliber axons at 7 months of age

abnormal myelination ( J:234659 )

• 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

abnormal retina morphology ( J:234659 )

• 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

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

homeostasis/metabolism

increased hyaluronic acid level ( J:234659 )

• hyaluronan is increased in 7 month 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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eif2b4^tm1.1Vdk mutation (0 available); any Eif2b4 mutation (40 available)
Eif2b5^tm1.1Vdk mutation (0 available); any Eif2b5 mutation (31 available)

♀	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

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

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

brain vacuoles ( J:234659 )

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

decreased oligodendrocyte number ( J:234659 )

• the number of mature oligodendrocytes is deceased

• however, oligodendrocyte morphology is normal

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

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

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

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

Find Mice

♀	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

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

Find Mice

♀	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

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 10/29/2024 MGI 6.24