The drunk mutation corresponds to a T-to-A transversion in the donor splice site of intron 11 (GT -> GA; nucleotide position 44998 in Genbank genomic region NC_000079). Sequence analysis of cDNA from drunk mice demonstrates that the mutation results in skipping of exon 11, shifting the reading frame after codon 303 (encoding glutamine) and leading to a premature termination codon that is predicted to truncate the protein after amino acid 318. (J:133627)

Basic Information

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

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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