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. 2007 Apr 6;3(4):e52. doi: 10.1371/journal.pgen.0030052

Figure 3. Abnormal RNA Splicing in Homozygous Mice Carrying over 600 CTG Trinucleotide Repeats on Both Alleles.

Figure 3

(A) Splicing abnormalities in the central nervous system. Abnormal splicing patterns were detected in the frontal cortex of 4-wk-old homozygous female mice (n = 3), when compared to wild-type (n = 3) and hemizygous female controls (n = 2) for mRNA transcripts of Grin1 (favored exon 21 skipping), Mapt (altered splicing patterns of exons 2 and 3, and favored exon 10 skipping), Mbnl1 (favored exon 7 inclusion), and Mbnl2 (favored exon 7 inclusion). Splicing abnormalities were also observed in the hippocampus and striatum (unpublished data).

(B) Splicing abnormalities in skeletal muscle. Reverse transcription-PCR experiments showed mRNA splicing defects for Insr (favored exon 11 inclusion) and Clcn1 (modification in the ratio and quantity of +/– exon 7a isoforms) in the gastrocnemius muscle of 4-wk-old homozygous female mice (n = 2) when compared to wild-type (n = 3) and hemizygous female controls (n = 1).

m, DNA molecular weight marker; wt, wild-type; XL, 600–700 CTG; XXL, 900-1000 CTG; SXXL, >1200 CTG.