Adamts13^s

Sequence analysis revealed a 6-kb intracisternal A particle (IAP) retrotransposon present in strains C57BL/6, BALB/c, C3H/He and DBA/2 but not present in 129/Sv. The locus in 129/Sv encodes a protein containing 1,426 amino acid residues that have the same domain structure as human ADAMTS13, while the mutant allele results in a shorter protein including 1,037 amino acids, where the C-terminal two TSP1 and two CUB domains are replaced with the 16-amino acid sequence ALVWEAAPTFAVTRWR, derived from the IAP. Splicing exon 23 to pseudo-exon 24, containing a premature stop codon, results in the loss of the original 3' end of the transcript. (J:98410, J:145400)