(A) Chromatogram of the Unc93b1+/+ (top) and Unc93b1Letr/Letr (bottom) gDNA sequence with the single T to A nucleotide change caused by the Letr mutation that is identified on the non-coding strand as A to T. (B) Gel electrophoresis of cDNA from Unc93b1Letr/Letr, Unc93b1+/Letr, and wild type inbred strains (C57BL/6, 129S1, C3H/HeN). The wild type transcript size is 918bp while the mutant transcript size is 756bp. (C) Schematic of Unc93b1 introns (lines) and exons (blocks), including the mutant (dashed red line) splicing pattern and resulting mRNA transcripts for Unc93b1+/+ and Unc93b1Letr/Letr mice. (D) Multiple species alignment of the UNC93B1 amino acid sequence surrounding and including exon 4. The boxed area delineates the missing sequence in Unc93b1Letr/Letr mice. (E) Predicted three-dimensional structure of wild type UNC93B1 with the 3d (red) and Letr (yellow) mutations mapped to their respective protein domains. The amino- and carboxy-termini are indicated as N and C, respectively.