These non-redundant mutant phenotypes include increased spontaneous mutation rate, transient accumulation of cells in a mid-anaphase checkpoint after exposure to camptothecin and, in cells that overexpress topoisomerase I (Top1), decreased survival of camptothecin-induced damage.
We initially screened through known Drosophila mutations that produce neurodegenerative phenotypes (including MCOLN) [ 18, 44] that might interact with AMPK mutants, which also produce neural degeneration-like phenotypes [ 16– 20].
Therefore, although it is possible that POGZ truncating mutations could lead to clinical phenotypes including mild congenital abnormalities, an additional unidentified cause in patient 2 could potentially be responsible for her uncharacteristic presentations.
SLC2A1 mutations were associated with variable phenotypes including paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, episodic ataxia and myotonia and we identified a novel PNKD gene deletion in familial hemiplegic migraine.
These observations further demonstrated that the loss-of-function z3 mutation is responsible for the pleiotropic phenotypes including leaf variegation, late flowering, and seed discoloration.
Deficiency in ACE due to ACE inhibition or complete absence of ACE due to genetic manipulation or mutations also leads to severe disease phenotypes including defects in fetal development, hypotension, inability to concentrate urine, structural renal defects, anemia, and reduced male fertility [4], [20].
Cancer cells undergo multiple genetic and epigenetic hits in the development of tumorigenic phenotypes, including somatic point mutations, increases in copy number, gene deletions, gene rearrangements, translocations and promoter hypermethylation [ 1].
Mutations in SPT10 and SPT21 share other phenotypes, including silencing defects (Chang and Winston 2011).
SALL4 mutations also result in a range of overlapping phenotypes, including Holt-Oram and Acro-renal-ocular Acro-renal-ocular Acro-renal-ocular0].
As we have shown previously, the Grey mutation is the primary cause of the Grey horse phenotypes including melanoma [ 17].
