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Eif2b4tm1.1Vdk
Targeted Allele Detail
Nomenclature
Symbol: Eif2b4tm1.1Vdk
Name: eukaryotic translation initiation factor 2B, subunit 4 delta; targeted mutation 1.1, Marjo S van der Knaap
MGI ID: MGI:6117465
Synonyms: 2b4ho, Eif2b4Arg484Trp
Gene: Eif2b4  Location: Chr5:31187558-31193139 bp, - strand  Genetic Position: Chr5, 17.24 cM, cytoband B1
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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
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:  26 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:  1 reference(s)

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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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory