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)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count