C3951493T
T48I | Vap33-PA; T48I | Vap33-PB; T48I | Vap33-PC; T48I | Vap33-PE
T48I
Analogous mutation in human VAPB implicated in amyotrophic lateral sclerosis 8; mutation carried on in vitro construct; site of nucleotide substitution in fly gene and specific disease association inferred by FlyBase curator.
Neurons of larval brains expressing Vap-33-1T48I.Scer\UAS under the control of Scer\GAL4elav.PU are filled with Vap-33-1 inclusions of various sizes, while numerous massive Vap-33-1 aggregates are visible in nerve fibres. Large Vap-33-1 aggregates are also seen in muscle cells when Vap-33-1T48I.Scer\UAS is expressed using Scer\GAL4C57.
Adult eyes of flies expressing Vap-33-1T48I.Scer\UAS under the control of Scer\GAL4ey.PU are reduced in size and are rough over the entire surface. Ommatidia are disorganized and fused, with missing, irregular and occasional supernumerary mechano-sensory bristles. Photoreceptor morphology is severely disrupted and several vacuoles are visible. Overall, eye size is less than 50% the size of controls.
Endoplasmic reticulum within larval brain cells expressing Vap-33-1T48I.Scer\UAS under the control of Scer\GAL4elav.PU appears fragmented and dispersed, rather than the reticular, perinuclear pattern seen in wild type. The same effect is seen in muscle cells when Vap-33-1T48I.Scer\UAS is expressed using Scer\GAL4C57.