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. 2017 Dec 5;8(2):401–409. doi: 10.1534/g3.117.300292

Figure 5.

Figure 5

The timon mutant phenotype is due to deletion of exon 63 in Fbn2. (A) After variant calling and genotyping for individual ENU-induced variants within the interval, analysis of split reads uncovered a 1696 bp deletion that encompasses exon 63 of Fbn2. (B) RT-PCR of Fbn2 transcripts using primers from exon 62–64 reveals a Mut product of 196 bp instead of 428 bp, as seen in WT and Het samples. The band in the RT reaction coincides with a band of similar size in the genomic DNA reaction (G), so this band likely reflects the presence of trace amounts of genomic DNA in our RT reactions. (C) Sequencing of RT-PCR products from WT and homozygous mutant samples demonstrate the complete loss of exon 63 sequence from the transcript. This results in frameshift and stop codons in exon 64. ENU, N-ethyl-N-nitrosourea; Het, heterozygous; Mut, mutant; NT, no template control; RT-PCR, reverse transcriptase polymerase chain reaction; WT, wild-type.