Therefore we are confident that the reported phenotypes are due to Perforin-2 deficiency and not the result of passenger mutations or differences between strains.
As the different reported phenotypes render it impossible to compare results between various studies, consensus on a common endothelial cell phenotype is a key issue.
Bilateral syndactyly is the main reported phenotype in all.
The OFA started reporting phenotype data in 1974.
When light chain restriction was observed, anti-CD38, FMC-7, CD79b, CD22, CD103, CD11c, CD25 expression were also investigated on B-cells to better characterize B-cell phenotype [ 6] and to investigate the concordance between the diagnosis reported and the phenotype of the pathological B-lymphocytes observed.
Among the phenotypes reported, abnormal phenotypes similar to type II necrosis, hybrid chlorosis and SGA were recognized, whereas dwarf phenotypes with excess tillers missing in F1 hybrids between Ldn and Ae. tauschii.
Thus, correlations between the phenotypes reported here can be taken to approximate half the heritability.
Furthermore, we suggest that the mutational-hazard hypothesis might underlie the reported correlations between genome size and phenotypes.
Two of the patients, also heterozygotes for PINK1 mutation, had more severe disease phenotypes, consistent with the reported interaction between PINK1 and DJ-1 gene products [19].
As the use of gene knockout models in thermoregulation studies has gained popularity, the reported incidence of redundant or discrepant phenotypes between studies has also increased.
