Atp7a^Mo-ms

While a direct complementation test was not done for this allele due to male lethality, mice carrying this mutation are genetically and phenotypically similar to other mottled alleles. The phenotype includes a defect in copper transport, consistent with a mutation in the Atp7a gene. The cDNA of this gene was sequenced and a CAG insertion was found at the end of the 4th exon in mutant but not in control mice. The same CAG insertion was previously described as a polymorphism in alternative splicing between BALB/c and C57BL/6 mice, therefore the changed sequence in this Atp7a allele may be strongly related to the phenotype but not the cause of the mutation. (J:156010)