Abca12^K416Bei

ENU treatment caused an T>C splice donor site mutation at the exon 47/intron 47 boundary, changing it from C-GT to C-GC. This results in a mis-spliced transcript with 4 intronic nucleotides added to the 3' of exon 47, caused by the use of a cryptic A-GT splice site, which in turn leads to a frameshift and a premature stop codon. This truncates the putatively translated peptide upstream of the highly conserved ABC domain. (J:239943)