Eif2ak4^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Eif2ak4^m1Btlr
• Name: eukaryotic translation initiation factor 2 alpha kinase 4; mutation 1, Bruce Beutler
• MGI ID: MGI:5049871
• Synonyms: atchoum
• Gene: Eif2ak4 Location: Chr2:118219099-118305715 bp, + strand Genetic Position: Chr2, 59.4 cM, cytoband E5
• Alliance: Eif2ak4^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: 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. (J:173669) Additional incidental mutations were detected in sequencing for the causative mutation, Eif2ak4^m1Btlr, and may be present in stocks carrying this mutation.
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Eif2ak4 Mutation: 89 strains or lines available

References

• Original: J:173669 Beutler B, Direct Data Submission 2011/07/19. MGI Direct Data Submission. 2011
• All: 2 reference(s)