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Eif2b5tm1Itl
Targeted Allele Detail
Nomenclature
Symbol: Eif2b5tm1Itl
Name: eukaryotic translation initiation factor 2B, subunit 5 epsilon; targeted mutation 1, InGenious Targeting Laboratory
MGI ID: MGI:5306369
Synonyms: Eif2b5R132H
Gene: Eif2b5  Location: Chr16:20498817-20509323 bp, + strand  Genetic Position: Chr16, 12.45 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:179801
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S/SvEv
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsExon 3 was replaced with a floxed neo cassette and a modified exon 3 in which a nucleotide substitutions (c.G2723A and a silent mutation generating a novel and unique Sal1 restriction site to facilitate genotyping) result in the amino acid substitution of histidine for arginine at position 132 (R132H), mimicking a mutation found in human patients suffering from leucoencephalopathy with vanishing white matter. (J:179801)
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 Eif2b5 Mutation:  21 strains or lines available
References
Original:  J:179801 Geva M, et al., A mouse model for eukaryotic translation initiation factor 2B-leucodystrophy reveals abnormal development of brain white matter. Brain. 2010 Aug;133(Pt 8):2448-61
All:  5 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