Atp7a^Mo-blo

The mutation is an A-to-C transversion in postition +3 of the intron 11 splice donor. Trancripts derived from this allele are often misspliced and either skip exon 11 or use a cryptic splice site further downstream from the correct splice site. Some normal transcript is also expressed. Western blot and activity analysis demonstrated that only greatly reduced levels of normal sized, but nonfunctional, protein was made. (J:17492, J:17493, J:23118, J:38977)