Table 1.

Summary of varicose allele characterization

AlleleClass*Mutation†DomainTracheal phenotypeJunctional protein‡SJ barrier§Isolation reference
38EFa2 WeakAG→AA TTCCAACTGAA1st common intron splice accept.Mild−/++(Butler et al., 2001)
3953b Intermediate17 bp Δ CTTGC_AGTTG3rd common intronMild/Strong−/+(Beitel and Krasnow, 2000)
R2376 StrongS178F ACCATTCCAAGHOOKStrongN.D.This work
HM2043 StrongE182K AGCTGAAGGAGHOOKStrongThis work
R979 StrongR185C AGCGGTGCAAAHOOKStrongThis work
R3 NullQ179Stop CATCCTAAGAGHOOKStrongThis work
327 NullAG→AA TTGCAAATCAT4th common intron splice accept.StrongThis work
F033NullTransposon TATTAA_AAATAG1st common intronStrong(Thibault et al., 2004)
  • * Classification based on genetic behavior in Table 2 and nature of the mutation.

  • The genomic sequence of the allele is shown with differences from the WT sequence underlined (most alleles) or marked with a `_' to indicate a deletion in vari3953b or the transposable element insertion in variF033 (amino acid numbering is from ATG of short isoform).

  • The `−' indicates that Vari staining at the SJ region was not detectable; N.D., not determined.

  • § SJ paracellular barrier function was assayed using the 10 kDa dye exclusion assay of Lamb et al. (Lamb et al., 1998) with `+' indicating normal barrier function, `−/+' indicating variable penetrance and expressivity of the barrier defect depending on the genetic background, and `−' indicating defective barrier function.

  • Full designation: PBac{WH}CG9326f00033.