Atp7a^tm1.2Mlke

A mini cDNA consisting of exon 15 with an ACG to ATC change resulting in a threonine to isoleucine substitution at amino acid 985 (T985I), a loxP site, an FRT-flanked PGK-neo, a terminating STOP codon, exons 15-23, and a loxP site replaced exon 15. The PGK-neo selection cassette was removed via Flp-mediated recombination. Cre-mediated recombination deleted the wild-type exons 15-23 and STOP codon, resulting in expression of the T985I mutant. The mouse T985I mutation corresponds to the T994I mutation in individuals with X-linked distal hereditary motor neuropathy. Real time qPCR shows normal levels of mRNA expression but Western blot shows decreased protein levels in the brain and spinal cord. (J:266704)