Spag9^m1Btlr

The mutation comprises a C to A transversion at base pair 93954938 on Chromosome 11 (NCBI m37 mouse assembly (Build 37.1)), corresponding to nucleotide 2544 of the transcript for isoform 1 of the protein, in exon 20 of the gene's 30 exons. It converts a triplet encoding cysteine to a premature termination codon at amino acid positon 788 (C788Ter) in protein isoform 1 (Uniprot record). (J:159363) Additional incidental mutations were detected in sequencing for the causative mutation, Spag9m1Btlr, and may be present in stocks carrying this mutation.