Eif2b4^tm1.1Vdk
Targeted Allele Detail

Summary

• Symbol: Eif2b4^tm1.1Vdk
• Name: eukaryotic translation initiation factor 2B, subunit 4 delta; targeted mutation 1.1, Marjo S van der Knaap
• MGI ID: MGI:6117465
• Synonyms: 2b4^ho, Eif2b4^Arg484Trp
• Gene: Eif2b4 Location: Chr5:31344902-31350483 bp, - strand Genetic Position: Chr5, 17.24 cM, cytoband B1
• Alliance: Eif2b4^tm1.1Vdk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:234659
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A C to T point mutation was introduced at position 1450 in exon 13 resulting in a tryptophan substitution for arginine at amino acid 484. In addition, a loxP site downstream of exon 12, a FRT-flanked neomycin cassette and a loxP site in exon 13 were introduced upstream of the mutation. This mutation corresponds to c.1447C>T, pArg148Trp in humans that is associated with the most severe forms of vanishing white matter. Cre-mediated recombination removed the floxed region which includes the neomycin cassette, leaving the R484W mutation in exon 13. (J:234659)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Eif2b4 Mutation: 40 strains or lines available

References

• Original: J:234659 Dooves S, et al., Astrocytes are central in the pathomechanisms of vanishing white matter. J Clin Invest. 2016 Apr 1;126(4):1512-24
• All: 3 reference(s)