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Cornelia de Lange syndrome
Cornelia de Lange syndrome is a developmental disorder characterized by growth delays, intellectual disability, limb skeletal defects and distinct facial features, sometimes accompanied by microcephaly, hearing loss, vision problems, gastrointestinal difficulties, small stature and more. Genes implicated thus far point to issues with chromosome structure, organization, and repair.

General information links for Cornelia de Lange syndrome:
NLM/NIH's Genetic and Rare Disease Information Center
CdLS Foundation
Genetics Home Reference
Genes of interest for Cornelia de Lange syndrome
Syndrome subtype Human gene Human full name Fly gene
Cornelia de Lange syndrome 1 NIPBL Nipped-B-like Nipped-B
Cornelia de Lange syndrome 2 SMC1A Structural maintenance of chromosomes 1A SMC1
Cornelia de Lange syndrome 3 SMC3 Structural maintenance of chromosomes 3 Cap
Cornelia de Lange syndrome 4 RAD21 Rad21 vtd
Cornelia de Lange syndrome 5 HDAC8 Histone deacetylase 8 ??

Stocks for studying Cornelia de Lange syndrome (in alphabetical order)
Relevant gene in stock Fly disease model or related mutation or transgene Stk # Comments
Nipped-B P{PZ}Nipped-B[02047] 11143 This insertion of P{PZ} into an intron of Nipped-B causes mitotic phenotypes and lethality.
Nipped-B Nipped-B[NC138] 7163 Allele of Nipped-B generated by EMS.
Nipped-B P{TRiP.HMS00401}attP2 32406 Expresses dsRNA for RNAi of Nipped-B (FBgn0026401) under UAS control.
Nipped-B P{TRiP.HM05172}attP2 28961 Expresses dsRNA for RNAi of Nipped-B (FBgn0026401) under UAS control.
Nipped-B P{TRiP.GL00574}attP40 36614 Expresses dsRNA for RNAi of Nipped-B (FBgn0026401) under UAS control.
SMC1 SMC1[exc46] 25718 A deletion removing SMC1 causes mitotic defects and lethality.
SMC1 P{TRiP.HMS01340}attP2 34351 Expresses dsRNA for RNAi of SMC1 (FBgn0040283) under UAS control.
SMC1 P{TRiP.GL00558}attP2 36598 Expresses dsRNA for RNAi of SMC1 (FBgn0040283) under UAS control.
SMC3 SMC3[B] 57066 An allele of SMC3 (aa change Q146@)
SMC3 SMC3[A] 57065 An allele of SMC3 (aa change K575@)
SMC3 P{TRiP.HMS00318}attP2 33431 Expresses dsRNA for RNAi of Cap (FBgn0015615) under UAS control.
SMC3 P{TRiP.HMJ03116}attP40 50899 Expresses dsRNA for RNAi of Cap (FBgn0015615) under UAS control.
SMC3 P{TRiP.GL00518}attP40 36783 Expresses dsRNA for RNAi of Cap (FBgn0015615) under UAS control.
vtd vtd[ex8] & P{tub-Rad21.271TEV-myc}3 27613 Imprecise excision of a P{EP} resulting in partial deletion of vtd (Rad21), including exons 1 and 2. Stock also expresses a TEV-cleavable Rad21 under the control of tubulin.
vtd vtd[ex3] & P{tub-Rad21-myc}3 27615 Imprecise excision of a P{EP} resulting in partial deletion of vtd (Rad21), including exons 1, 2 and 3. Stock also expresses Rad21 under the control of tubulin.
vtd vtd[ex3] 27609 Imprecise excision of a P{EP} resulting in partial deletion of vtd (Rad21), including exons 1, 2 and 3.
vtd vtd[ex15] & P{tub-Rad21.550TEV-myc}3 27614 Imprecise excision of a P{EP} resulting in partial deletion of vtd (Rad21), including exons 1 and 2. Stock also expresses a TEV-cleavable Rad21 under the control of tubulin.
vtd vtd[ex15] 27610 Imprecise excision of a P{EP} resulting in partial deletion of vtd (Rad21), including exons 1 and 2.
vtd vtd[80Fh-1] 26164 Mutation of W18 to stop.
vtd vtd[4] 5050 Partial deletion of vtd, including exons 1 and 2 and part intron 2.
vtd vtd[14] 26165 Deletion from intron 2 to the end of the transcription unit.
vtd P{TRiP.GL00522}attP2 36786 Expresses dsRNA for RNAi of vtd (FBgn0260987) under UAS control.
vtd P{tub-Rad21-myc}3 & vtd[ex3] 27615 Expresses full length vtd tagged with at the C-terminus with Myc under the control of the alphaTub84B in a vtd deletion background.
vtd P{tub-Rad21.550TEV-myc}3 & vtd[ex15] 27614 Expresses myc-tagged vtd (Rad21) protein with a TEV protease cleavage site in all cells under control of the alphaTub84B promoter in a vtd deletion background.
vtd P{tub-Rad21.271TEV-myc}3 & vtd[ex8] 27613 Expresses myc-tagged vtd (Rad21) protein with a TEV protease cleavage site in all cells under control of the alphaTub84B promoter in a vtd deletion background.