Table 1.
Comparison of PMCA2 function in deafwaddler mutants and DTR mice
Genotype | Hearing Phenotype | PMCA Protein | PMCA Efficiency | PMCA Function |
---|---|---|---|---|
Wild type | Normal | 100% | 100% | 100% |
+/dfw2J | High-frequency loss | ∼50% | 100% | ∼50% |
dfw/dfw | Deaf | 100% | ∼30% | ∼30% |
dfw2J/dfw2J | Deaf | 0% | 0% | 0% |
DTR | Deaf | 100% | 100% | 100% |
The % of PMCA protein is calculated based on the number of functional alleles possessed by an animal, assuming that all alleles produce the same amount of protein. Because of the premature stop codon in the dfw2J mutation, no protein is produced. The efficiency of PMCA2 was calculated by Penheiter and colleagues with a calcium clearance assay in the dfw mutants (Penheiter et al. 2001). In +/dfw2J heterozygotes the efficiency of the existing PMCA will be wild type like, but its overall function in the animal only amounts to 50%.