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Allele : Eif2ak4<m1Btlr> eukaryotic translation initiation factor 2 alpha kinase 4; mutation 1, Bruce Beutler

Primary Identifier  MGI:5049871 Allele Type  Chemically induced (ENU)
Gene  Eif2ak4 Inheritance Mode  Recessive
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false Project Collection  Beutler Mutagenetix
molecularNote  ENU induced a T to C transition at position 12038 (GenBank NC_000068). The mutation affects the donor splice site of intron 2. cDNA sequencing of the four largest Eif2ak4 transcripts in atchoum mice revealed that the mutation invariably results in skipping of exon 2, in some cases along with skipping of other exons; splicing from exon 1 to exon 3, exon 4, exon 5, or exon 6 was observed in the four sequenced transcripts. No GCN2 protein expression was detected in homozygous atchoum macrophages by immunoblot.
  • mutations:
  • Single point mutation
  • synonyms:
  • atchoum,
  • atchoum
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele