Figure 3.

Schematic representation of the murine Fah^6287SB and Fah^5961SB point mutations and their effect on the processing of the Fah mRNA. (A) Top illustrates the normal splicing pattern for Fah followed by the altered pattern in Fah^5961SB and a similar schematic for Fah^6287SB. (Middle) As indicated, the Fah^5961SB mutation results in an altered pattern of mRNA splicing, causing the loss of exon 7 from the Fah mRNA and a subsequent shift in the reading frame to introduce a premature stop codon in exon 9. Bottom shows the relative position of the missense mutation in Fah^6287SB. (B) Nucleotide sequences of Fah exons 6, 7, and 8 of control BALB/cRl (line 1), mutant 6287SB (line 2), and mutant 5961SB (line 3). Mutant Fah^6287SB has a point mutation at nucleotide 602, as indicated by the “g” in exon 6 in line 2. Mutant Fah^5961SB has a point mutation in the last position of exon 7, as indicated by the “a” in line 3, that destroys the consensus splice donor sequence.