Eif2b5^tm1.1Vdk
Targeted Allele Detail

Summary

• Symbol: Eif2b5^tm1.1Vdk
• Name: eukaryotic translation initiation factor 2B, subunit 5 epsilon; targeted mutation 1.1, Marjo S van der Knaap
• MGI ID: MGI:6117472
• Synonyms: 2b5^ho, Eif2b5^Arg191His
• Gene: Eif2b5 Location: Chr16:20317567-20328073 bp, + strand Genetic Position: Chr16, 12.45 cM
• Alliance: Eif2b5^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 G to A point mutation was introduced at position 572 in exon 4, resulting in a histidine substitution for arginine at amino acid 191. In addition, a loxP-flanked neomycin cassette was inserted downstream of exon 5. This mutation corresponds to c.584G>A, pArg195His in humans that is associated with the most severe forms of vanishing white matter. Cre-mediated recombination removed the floxed neomycin resistance cassette leaving the R191H mutation in exon 4. (J:234659)

Disease models

Expression

In Structures Affected by this Mutation:

8 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 Eif2b5 Mutation: 31 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: 6 reference(s)