Amino acid replacement: T227M.
Mutation of a conserved residue at the junction between the ligand bind domain and the trans-membrane domain.
Nucleotide substitution: C?T.
C23263873T
C?T
T227M | nAChRalpha4-PC; T59M | nAChRalpha4-PD; T72M | nAChRalpha4-PE; T59M | nAChRalpha4-PF; T227M | nAChRalpha4-PG; T227M | nAChRalpha4-PH
T227M
nAChRα4rye mutants show a severe reduction of sleep length: homozygotes show >50% reduction in both daytime and night-time sleep; heterozygotes have slightly less sleep than wildtype. The activity of homozygotes is comparable to controls, suggesting nAChRα4rye is not hyperactive. The reduction in baseline sleep results largely from a shortening of the average sleep episode duration, indicating a defect in sleep maintenance - the average number of sleep episodes at night is actually increased significantly.
Most nAChRα4rye homozygotes show normal circadian rhythms.
nAChRα4rye has abnormal sleep | dominant phenotype, enhanceable by qvr+tKa
nAChRα4rye has abnormal sleep | dominant phenotype, non-enhanceable by qvr[+]/qvrEY04063
nAChRα4rye/+; qvrEY04063/+ flies show sleep duration comparable to that of nAChRα4rye/+ alone.
nAChRα4rye/+; qvr+tKa flies show a further reduction in sleep over that of nAChRα4rye/+ alone.
nAChRα4rye is partially rescued by nAChRα4UAS.cSa/Scer\GAL4nAChRα4.ryeP
Scer\GAL4nAChRα4.ryeP-mediated expression of nAChRα4Scer\UAS.cSa partially rescues the nAChRα4rye phenotype and restores total sleep to levels seen in nAChRα4rye heterozygotes.