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Allele : Eif2b5<tm1.1Vdk> eukaryotic translation initiation factor 2B, subunit 5 epsilon; targeted mutation 1.1, Marjo S van der Knaap

Primary Identifier  MGI:6117472 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Eif2b5
Transmission  Germline Strain of Origin  C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  A 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.
  • mutations:
  • Insertion,
  • Single point mutation
  • synonyms:
  • 2b5<ho>,
  • Eif2b5<Arg191His>,
  • 2b5<ho>,
  • Eif2b5<Arg191His>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

9 Publication categories

Trail: Allele