T4465302C
L22P | FIG4-PA
L22P
Analagous mutation in human FIG4 implicated in Charcot-Marie-Tooth disease, type 4J; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.
Scer\GAL4Mef2.PU/FIG4L17P.UAS.Tag:MYC partially rescues FIG4Δ1
Expression of FIG4L17P.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4Mef2.PU partially rescues the lysosome expansion phenotype in somatic muscles of FIG4Δ1 homozygous third instar larvae.