Table 1.
Pathogenic Mechanism | Drosophila Model | Affected Tissue | Phenotype | Ref |
---|---|---|---|---|
Loss of function | UAS-CNBPRNAi | Muscle (c179-G4; How24B-G4; Mef-G4, Mhc-G4) | Locomotion Climbing |
[13] |
RNA toxicity | UAS-CCTG16 | Eye (GMR-G4), Muscle (How24B-G4), Nervous system (elav-G4) |
Eye degeneration | |
UAS-CCTG200 | Muscle RNA foci | [68] | ||
UAS-CCTG475 | ||||
UAS-CCTG525 | ||||
UAS-CCTG700 | ||||
UAS-CCTG720 | ||||
Missplicing | [69] | |||
UAS-CCTG106 | Muscle (Mhc-G4) Eye (GMR-G4) |
Apoptotic response | ||
UAS-CCTG480 | ||||
Autophagy | ||||
UAS-CCTG20 | Muscle (Mhc-G4) Heart (GMH5-G4) |
Muscle degeneration | [58] | |
UAS-CCTG1100 | Reduced survival | |||
Locomotor defects |