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, Eif2ak4m1Btlr, and may be present in stocks carrying this mutation.

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
4
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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