Tg(CST3*L68Q)#Efl

An 8.9 kb genomic fragment containing the human gene was micro-injected into single-cell embryos. This version of the gene contains a T>A mutation causing a p.Leu68Gln substitution in the encoded peptide. This mutation is found in patients suffering from hereditary cerebral hemorrhage with amyloidosis, Icelandic type (HCHWA-I). (J:269038)