The mutation in the sph-BC mouse was identified as a G-to-T in transversion in the first nucleotide of intron 41. This mutation eliminates exon 41 splice donor site G-GT by changing it to G-TT. This causes a splicing defect that results in the skipping of exon 41 causing the deletion of 54 amino acids as well as a frameshift and a premature stop codon. (J:81125)