All Phenotypes Eif2b4<tm1.1Vdk> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Eif2b4^tm1.1Vdk/Eif2b4^tm1.1Vdk	involves: C57BL/6 * C57BL/6J	MGI:6160483
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

Allelic Composition	Eif2b4^tm1.1Vdk/Eif2b4^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)

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

mortality/aging

premature death ( J:234659 )

• mice survive until 18-20 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 show onset of clinical vanishing white matter features around 7 months of age

• however, white matter does not contain myelin vacuoles

abnormal astrocyte morphology ( J:234659 )

• mice have abnormal white matter astrocytes from 2 months of age

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

♀	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

• 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

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

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

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)
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