Atp7a^Mo-br

Two significant nucleotide changes were noted in the brindled mouse. A 6 bp in-frame deletion in exon 11 removed a leucine and an alanine at positions 801 and 802 (or 800 and 801, depending on the splice variant) from the encoded protein. A G-to-A transition mutation was also detected at codon 514 (or 513) that changed an alanine codon to threonine, but this alteration is in a region unlikely to affect function. The deletion is in a region postulated to affect Cu transport activity. Western blot analysis demonstrated that a normal sized protein was made from this allele at levels comparable to wild-type. (J:38978, J:41388)