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Eif2b5tm1.1Vdk
Targeted Allele Detail
Nomenclature
Symbol: Eif2b5tm1.1Vdk
Name: eukaryotic translation initiation factor 2B, subunit 5 epsilon; targeted mutation 1.1, Marjo S van der Knaap
MGI ID: MGI:6117472
Synonyms: 2b5ho, Eif2b5Arg191His
Gene: Eif2b5  Location: Chr16:20498817-20509323 bp, + strand  Genetic Position: Chr16, 12.45 cM
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 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)
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: 8 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 Eif2b5 Mutation:  20 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/05/2019
MGI 6.13
The Jackson Laboratory