Adamts20^sp2

The splotch2 mutation corresponds to a T to A transversion in the acceptor splice site of intron 16 (TTTTTCAG -> ATTTTCAG) of the Adamts20 gene on Chromosome 15 (position 65398 in the Genbank genomic region NC_000081). Mutation of the normal acceptor splice site for intron 16 may result in deletion of exon 17 if the next acceptor site is used, partial deletion if the cell uses an alternative downstream site or insertion of non-coding sequence if the cell uses an upstream alternative splice site. Deletion of exon 17 would result in loss of the reading frame and a truncation of the protein but this possibility has not been confirmed at the cDNA level.