Table 5. Human channelopathies with Drosophila orthologs identified in screen.

Drosophila Gene	Drosophila Line Screened	Observed wing phenotype	Human Ortholog	Associated Channelopathy	Human channelopathy lesion type	Human morphological phenotypes
Task6	Mi(MIC) insertion (BL59167)	PCV bifurcation	KCNK9	Birk-Barel Syndrome	Heterozygous missense mutation causing channel loss-of-function (Barel et al., 2008)	Facial dysmorphism
Nanchung	Wing-specific RNAi knockdown (MS1096 driver with BL31295)	L5 incomplete, L5 bifurcation	TRPV4	TRPV4 skeletal dysplasias	Variety of heterozygous missense mutations causing channel gain-of-function or loss-of-function (Nilius & Voets 2013)	Wide variety of skeletal dysplasias (see Nilius & Voets, 2013 for phenotype summaries)
unc80	Mi(MIC) insertion (BL42469)	PCV bifurcation, ectopic vein, pigment defect	UNC80	IHPRF2	Homozygous missense and truncating mutations causing channel loss-of-function (Stray-Pedersen et al., 2016)	Facial dysmorphism, small hands and feet (Stray-Pedersen et al., 2016)
narrow abdomen	Hypomorphic allele (BL74)	Bristle defects, ectopic vein	NALCN	IHPRF1	Homozygous missense and nonsense mutations causing channel loss-of-function (Al-Sayed et al., 2013)	Facial dysmorphism (Al-Sayed et al., 2013)
narrow abdomen	Hypomorphic allele (BL74)	Bristle defects, ectopic vein	NALCN	CLIFAHDD	Heterozygous missense mutations in the pore-forming domain, suspected to have a dominant-negative effect (Chong et al., 2015)	Severe facial dysmorphism, limb and digit deformities (Chong et al., 2015)
nAChRα5	Mi(MIC) insertion (BL41424)	PCV bifurcation	CHRNA7	15q13.3 microdeletion syndrome	Heterozygous or homozygous deletion of CHRNA7 (Hoppman-Chaney et al., 2013)	Facial dysmorphism (Hoppman-Chaney et al., 2013)
nAChRα6	P-element insertion (BL20783)	PCV bifurcation
nAChRα7	Antimorphic allele (BL24880)	PCV bifurcation

PCV, posterior cross vein, L, longitudinal vein, BL, Bloomington Drosophila Stock Center number.