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Allele : Eif2b5<tm1Itl> eukaryotic translation initiation factor 2B, subunit 5 epsilon; targeted mutation 1, InGenious Targeting Laboratory

Primary Identifier  MGI:5306369 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Eif2b5
Transmission  Germline Strain of Origin  129S/SvEv
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • Eif2b5<R132H>,
  • Eif2b5<R132H>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

10 Publication categories