Tor1a^tm5Yql

The same targeting vector used for Tor1atm1Yql was used to generate this allele. It was designed to insert a mutant exon 5 containing a deletion of trinucleotide GAA corresponding to the human codon 302. The cassette also carried a PGK-neo-pA-STOP, with a false translation signal, splice donor site, and another polyA tail inserted into intron 4. However, a highly efficient recombination site within intron 4 downstream of the PGKneoSTOP cassette and before the exon 5, resulted in ES cells with recombination having only PGKneoSTOP inserted into the intron4. The allele expressed a reduced level of torsinA protein encoded by the Tor1a gene. (J:104513, J:131080)