The most extensively studied truncation mutant, Gly127insTGGG (G127X), has been found to be rapidly degraded and to be present only in minute amounts in the human spinal cord [ 22].
However, as shown by RT-PCR and in situ hybridization, the most commonly studied Ntn1 mutant is a severe hypomorph that does not exhibit all of the phenotypes predicted by in vitro assays and phenotypic analyses of Ntn1 receptor mutants (Lu et al., 2004; Serafini et al., 1996; Williams et al., 2006).
To determine the phenotypes produced in double heterozygotes, we bred mice with all three pairwise combinations of Vangl2 Lp, Scrib Crc and Celsr1 Crsh mutations, the most intensively studied PCP mutants.
The most widely studied POAG OPTN mutant is the commonest E50K mutation.
In most studies, FAD PSEN mutants have been stably overexpressed in permanent cell lines or transgenic mice, leading to replacement of endogenous WT PSEN1 and PSEN2 proteins in cellular γ-secretase complexes [ 63].
PrfAG145S, the most well studied constitutively active mutant, was found to be able to completely bypass the requirement for glutathione during infection (Reniere et al., 2015).
In most studies, constitutively-active (V12) mutants, or dominant-negative (N17) mutants of Rac1 and/or Cdc42 have been used to elucidate the respective unique roles each protein plays in oncogene transformation.
We specifically analyzed conformation defective R175H p53 mutant (p53H175) because it is one of the most frequently and vastly studied p53 mutant, which not only exhibits dominant-negative activities over wtp53 but also possesses GOF properties.
The latter is the second most commonly studied strain because many mutants have been classically isolated in it and a large portion of its genome sequence was available soon after Col sequence [ 26].
Most studies have employed immunohistochemical detection of mutant p53 protein, leaving the possibility of functional p53 loss through alternative mechanisms.
