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Coffin-Lowry Syndrome
Coffin-Lowry Syndrome is an X-linked dominantly inherited disorder caused by mutations in the RPS6KA3 gene. Male patients usually have severe intellectual disabilities while female intellectual disabilities are more variable, from non-existant to profound. Most affected individuals have distinctive facial and hand characteristics. Other symptoms include microcephaly, spinal curvature, skeletal abnormalities, and stimulus-induced drop episodes (SIDEs) (affected individuals remain conscious but collapse briefly when startled or are unexpectedly excited).

General information links for Coffin-Lowry Syndrome:
Genetics Home Reference
NLM/NIH's GeneReviews
NLM/NIH's Genetic and Rare Disease Information Center
Causative genes for Coffin-Lowry Syndrome
Syndrome Human gene Human full name Fly gene
Coffin-Lowry syndrome RPS6KA3 Ribosomal S6 kinase 2 (Rsk II or Rsk2) S6kII

Stocks for studying Coffin-Lowry Syndrome
Relevant gene in stock Fly disease model or related mutation or transgene Stk # Comments
S6kII P{TRiP.JF02814}attP2 27731 Expresses dsRNA for RNAi of S6kII (FBgn0262866) under UAS control.
S6kII P{TRiP.HMC04339}attP2 56031 Expresses dsRNA for RNAi of S6kII (FBgn0262866) under UAS control.
S6kII P{TRiP.HMC03140}attP40 51694 Expresses dsRNA for RNAi of S6kII (FBgn0262866) under UAS control.
S6kII P{TRiP.GL00207}attP2 35583 Expresses dsRNA for RNAi of S6kII (FBgn0262866) under UAS control.
S6kII P{UAS-S6kII.B}85 8714 Expresses wild type S6kII (RSK) under the control of UAS (there may be two insertions).