Figure 2

The identification of Ank-1^(MRI61689)mutation and its effects on transcription.

The sequencing of Ank-1^(MRI61689) mutation, showing a T to A transversion (a). Gel electrophoresis of amplified cDNA product from wild-type, Ank-1^(MRI61689/+) and Ank-1^{(MRI61689/MRI61689)}embryonic livers with primers that spanned the exon 17 to 21 of ankyrin-1 cDNA (primer set 1) (b). The sequencing results of both bands, showing exon skipping in the abnormal transcript of Ank-1^{(MRI61689/MRI61689)}embryonic liver (c). Gel electrophoresis of amplified cDNA product from wild-type, Ank-1^(MRI61689/+) and Ank-1^{(MRI61689/MRI61689)}embryonic livers with primers that contained the predicted 11 bp insertion (primer set 2) (d). Sequencing result showing an 11 bp insertion between exon 17 and 18 cDNA of the Ank-1^(MRI61689) transcript (e). The predicted effect of the insertion on the translation of ankyrin-1, showing a frameshift and a premature chain termination (f).