Eif2b5^tm1Itl
Targeted Allele Detail

Summary

• Symbol: Eif2b5^tm1Itl
• Name: eukaryotic translation initiation factor 2B, subunit 5 epsilon; targeted mutation 1, InGenious Targeting Laboratory
• MGI ID: MGI:5306369
• Synonyms: Eif2b5^R132H
• Gene: Eif2b5 Location: Chr16:20317567-20328073 bp, + strand Genetic Position: Chr16, 12.45 cM
• Alliance: Eif2b5^tm1Itl page

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 details: Exon 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)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
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 Eif2b5 Mutation: 31 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: 7 reference(s)