Smse00382 homozygotes are semi-lethal, with only a small proportion of individuals reaching adulthood compared to heterozygous controls; the few surviving adults (of both genders) are short-lived and present severe locomotor impairment in negative geotaxis assays, as compared to controls.
The eyes of Smse00382 homozygous adults present abnormal vacuoles in the retina at day 2 after eclosion, present a progressive loss of pigmentation and present progressive decreases of photoreceptor depolarization and synaptic response (ON and OFF transients), as compared to controls. The visual synapses within the lamina of these mutants are morphologically abnormal, as the presynaptic photoreceptor terminals show increases in single layer, double layer and multilayer membrane structures, and multilayer bodies, and mitochondria are less numerous, enlarged and frequently lack crista, as compared to controls. These synapses also present significant increases in the numbers of early endosomes (assessed by Rab5 puncta), autophagosomes (assessed by Atg8a puncta) and ubiquitinated protein puncta, present impaired autophagy flux (assessed by an Atg8a fluorescence-based pH sensor), and present impaired lysosome integrity (assessed by LAMP1 and Cathepsin L puncta), as compared to controls.
Smse00382 has partially lethal - majority die | recessive phenotype, suppressible | partially by GstE1EP2231/Scer\GAL4Act.PU
Smse00382 has abnormal locomotor behavior | adult stage phenotype, suppressible | partially by GstE1EP2231/Scer\GAL4Act.PU
Smse00382 has short lived phenotype, suppressible by GstE1EP2231/Scer\GAL4Act.PU
Smse00382 has abnormal neurophysiology | adult stage | progressive phenotype, suppressible by GstE1EP2231/Scer\GAL4Act.PU
Smse00382 has abnormal eye color | adult stage | progressive phenotype, suppressible by GstE1EP2231/Scer\GAL4Act.PU
Smse00382 has partially lethal - majority die | recessive phenotype, suppressible | partially by Scer\GAL4Act.PU/Hsap\SMSUAS.Tag:FLAG
Smse00382 has abnormal locomotor behavior | adult stage phenotype, suppressible | partially by Scer\GAL4Act.PU/Hsap\SMS443.UAS.Tag:FLAG
Smse00382 has short lived phenotype, suppressible | female limited | partially by Scer\GAL4Act.PU/Hsap\SMS443.UAS.Tag:FLAG
Smse00382 has partially lethal - majority die | recessive phenotype, non-suppressible by Scer\GAL4Act.PU/Hsap\SMS443.UAS.Tag:FLAG
The short lived phenotype of Smse00382 homozygotes is strongly suppressed by the expression of GstE1EP2231 under the control of Scer\GAL4Act.PU; the partial lethality, adult locomotor defects, progressive eye pigmentation loss and progressive decreases of photoreceptor depolarization and synaptic response (ON and OFF transients) observed in these mutants are also, although more modestly, ameliorated by the expression of GstE1EP2231.
The partial lethality of Smse00382 homozygotes is ameliorated by the expression of Hsap\SMSScer\UAS.T:Zzzz\FLAG, but not Hsap\SMS443.Scer\UAS.T:Zzzz\FLAG, under the control of Scer\GAL4Act.PU. The locomotor activity defects of both male and female Smse00382 homozygous adults, as well as the decreased longevity defects of male, but not of female, Smse00382 homozygous adults are partially rescued by the expression of Hsap\SMS443.Scer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4Act.PU.
Smse00382 is partially rescued by Scer\GAL4Act.PU/SmsUAS.Tag:FLAG
The partial lethality and the progressive decreases of photoreceptor depolarization and synaptic response (ON and OFF transients) observed in Smse00382 homozygotes are partially and fully rescued, respectively, by the expression of SmsScer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4Act.PU.