ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease
J. Clin. Invest. Jer-Yuarn Wu, et al. 113:434 doi:10.1172/JCI19574 [Go to this article.]

Figure 2
Sequence analysis of mouse Bcat2 gene. (a) Nucleotide sequences showing T/T (WT, left panel), T/C (G1 father, middle panel) and C/C (affected, right panel) at second nucleotide position of intron 2. (b) RT-PCR results of mRNA amplified with primers located in exon 1 and exon 4 as described in Methods. Lane 1, WT liver; lane 2, WT muscle; lane 3 affected liver; lane 4, affected muscle; M, molecular weight markers. (c) Alignment of nucleotide and deduced amino acid sequences derived from RT-PCR results in b. Mitochondrial targeting leader sequences are underlined. Dots represent gaps. Sequences marked between two arrows represent exon 2.