Dsp^rul

A spontaneous duplication of TGTCAGAA at chromosome 13 position 38,197,110-117 (GRCm38) causes a frameshift beginning in the last exon, resulting in the insertion of 4 novel amino acids followed by a premature stop codon that yields a C-terminal truncation of the protein, which is predicted to have partial function with spectrin repeat elements and chromosome segregation ATPase domain intact but partial loss of the plectrin repeats, and western blot analysis shows an altered mutant isoform. (J:217650, J:222308)