Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β-Globin Gene with the IVSI-6 Thalassemia Mutation

Figure 8

(a) Schematic representation of the human β-globin gene and mRNA. The three cryptic GT splicing sites activated by the IVSI-6 mutation and the two consequent stop codons are indicated with different colours. The IVSI-6 mutation (T→C) is identified by a red star. (b) Genomic region containing the first and second exons of the human β-globin gene, in bold characters. The IVSI-6 mutation occurring at the sixth nucleotide of the first intron is shown in red. The coloured boxes indicate the three cryptic splicing sites activated by the mutation and the two consequent stop codons. The transcription and translation starting sites are also indicated.

(a)

(b)