Phenotypes associated with this allele

• Allele Symbol: Eif2b5^tm1Itl
• Allele Name: targeted mutation 1, InGenious Targeting Laboratory
• Allele ID: MGI:5306369
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Eif2b5^tm1Itl/Eif2b5^tm1Itl	B.129S-Eif2b5^tm1Itl	MGI:5306391
hm2	Eif2b5^tm1Itl/Eif2b5^tm1Itl	involves: 129S/SvEv	MGI:5752255
hm3	Eif2b5^tm1Itl/Eif2b5^tm1Itl	involves: 129S/SvEv * C57BL * Swiss Webster	MGI:5306390

Genotype
MGI:5306391

hm1

• Allelic Composition: Eif2b5^tm1Itl/Eif2b5^tm1Itl
• Genetic Background: B.129S-Eif2b5^tm1Itl

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

behavior/neurological

impaired coordination ( J:179801 )

• as early as 6 weeks of age in a rotarod test

Genotype
MGI:5752255

hm2

• Allelic Composition: Eif2b5^tm1Itl/Eif2b5^tm1Itl
• Genetic Background: involves: 129S/SvEv

hematopoietic system

abnormal microglial cell physiology ( J:192103 )

• primary microglial cells exhibit impaired production of cytokines in response to LPS

immune system

abnormal microglial cell physiology ( J:192103 )

• primary microglial cells exhibit impaired production of cytokines in response to LPS

nervous system

abnormal microglial cell physiology ( J:192103 )

• primary microglial cells exhibit impaired production of cytokines in response to LPS

abnormal astrocyte morphology ( J:192103 )

• astrocyte cultures treated with LPS show abnormal morphology, remaining flat shaped rather than star shape in response to activation

abnormal astrocyte physiology ( J:192103 )

• mice exhibit impaired astrogliosis in response to systemic stress induced by lipopolysaccharide (LPS)

• primary astrocytes exhibit impaired production of cytokines in response to LPS

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
leukoencephalopathy with vanishing white matter		DOID:0060868	OMIM:PS603896	J:192103

Genotype
MGI:5306390

hm3

• Allelic Composition: Eif2b5^tm1Itl/Eif2b5^tm1Itl
• Genetic Background: involves: 129S/SvEv * C57BL * Swiss Webster

nervous system

abnormal brain white matter morphology ( J:179801 )

• abnormal development of brain white matter

abnormal brain internal capsule morphology ( J:179801 )

• as detected by MRI

• however, older mice exhibit normal isotropy values in an MRI

abnormal astrocyte morphology ( J:179801 )

• decreased astrocyte numbers at 3 weeks but not 4 months

increased oligodendrocyte number ( J:179801 )

• at 3 weeks but not 4 months

abnormal axon morphology ( J:179801 )

• young mice exhibit a higher portion of small-caliber axons compared with wild-type mice

demyelination ( J:179801 )

• late-onset myelin degeneration

• impaired recovery from cuprizone-induced demyelination

homeostasis/metabolism

abnormal physiological response to xenobiotic ( J:179801 )

• impaired recovery from cuprizone-induced demyelination

adipose tissue

decreased percent body fat/body weight ( J:179801 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
leukoencephalopathy with vanishing white matter		DOID:0060868	OMIM:PS603896	J:179801