Phenotypes Associated with This Genotype

Genotype
MGI:6160483

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

• ♀: 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