However, albino mutants are not found in nature in all animal species.
The missense mutants were not found at the cell surface, which was suggestive of their misfolding and ic degradation.
It has to be mentioned that the severity of the ocular defects varies among the different Col4a1 alleles, but there is also some phenotypic variability within each mutant line similar to the features observed in our Pxdn mutants as outlined in Tables 1 and 2. In addition, mutations in Col4a1 (44– 46) and Col4a2 (47) can cause hemorrhagic stroke, but similar changes in Pxdn mutants were not found.
As was the case for the Nes-Cre Wt1co/co kidneys (Essafi et al., 2011), no differences in proliferation or apoptosis were found in the other two models (data not shown); the 'escaping nephrons' that developed completely normally but were still Wt1-positive in the Nes-Cre-driven mutant were not found in the other mutants either (data not shown).
Since the PilC1 mutant were not found at the respiratory mucosa, but crossed the BBB, it is likely that the mechanisms by which N. meningitidis interacts with these two cellular barriers are different.
We found that expression of let-60 in all three neuronal classes rescued the CL phenotype in let-60 lf) let-60 lfwhich was not found when the expression of let-60 occurred in a single class of neurons.
Cys406 was mutated to serine by site directed mutagenesis and the mutant MtbC406S was not found to be active and was not able to synthesize or degrade c-di-GMP.
The proportion of mutant alleles was not found to be different between PTC-only cases (mean 28%, range 12 44%) and the two PTC/CLT cases (18 and 34%).
Importantly, nonsense-mediated decay of the mutant transcripts was not found to be a problem in this small set, but should the problem occur, mutation detection sensitivity as low as 25% is possible with HTS-PTT [ 14].
In breast cancer, PP2A has been shown to prevent the oncogenic transformation of human breast epithelial cells [ 13], and, conversely, mutant PP2A was not found to be able to suppress the oncogenic activity of RalA [ 15].
