Vertebral anomalies and variable endocrine and T-cell dysfunction

Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD) is a human multisystem malformation disorder that can include skeletal and endocrine system abnormalities, immune deficiencies, craniofacial dysmorphism, developmental delay, behavioral problems and cardiac defects. VETD is caused by mutations in the TBX2 gene.

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Stocks for studying L1 syndrome
Relevant gene in stockFly disease model or related mutation or transgeneStk #Comments
bibi[omb-3198]80152bi carries amino acid change W395stop.
bibi[D4]80151bi carries a point mutation in exon 2 that causes premature termination of the protein
bibi[D2]3206Allele of bi caused by a translocation.
bibi[1]12Hypomorphic allele of bi.
biP{TRiP.JF02976}attP228341Expresses dsRNA for RNAi of bi (FBgn0000179) under UAS control in the VALIUM10 vector.
biP{TRiP.HMS02815}attP244095Expresses dsRNA for RNAi of bi (FBgn0000179) under UAS control in the VALIUM20 vector.
bibi[Qd]3757A gain of function allele of bi.
biMi{PT-GFSTF.2}bi[MI01347-GFSTF.2]59290Recombination Mediated Cassette Exchange of a Mi{MIC} insertion results in expression of bi tagged with EGFP-FlAsH-StrepII-TEV-3xFlag.
biP{UAS-bi.P}280150Expresses bi under the control of UAS.
biP{TOE.GS02304}attP4079803Expresses sgRNAs ubiquitously for expression of bi (FBgn0000179) by a Cas9-based transcriptional activator.
biP{GawB}bi[md653]3045Expresses GAL4 under the control of omb (aka bi).
biP{GAL4}MD73580153Expresses GAL4 in the wing pouch in a wide band along the A/P axis, and in the wing hinge primordium, alula anlage, dorsal and ventral margins of the eye and in retinal basal glia. Minimal expression is seen in the antennal and leg discs.
biP{GAL4}bi[omb-Gal4]58815Expresses GAL4 in the wing pouch and in abdominal segments as stripes spanning compartment boundaries.
TBX2 (human)PBac{UAS-hTBX2.L}VK0003783355Expresses human TBX2 under the control of UAS.
TBX2 (human)PBac{UAS-hTBX2.R305H}VK0003783356Expresses human TBX2 carrying amino acid change R305H under the control of UAS. The R305H change is a mutation associated with a human multisystem malformation disorder, VETD.
TBX2 (human)PBac{UAS-hTBX2.R20Q}VK0003783354Expresses human TBX2 carrying amino acid change R20Q under the control of UAS. The R20Q change is a mutation associated with a human multisystem malformation disorder, VETD.
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