Stock Center logo
Angelman syndrome
Angelman syndrome is a neuro-genetic disorder characterized by intellectual disability, developmental delays, ataxia, and severe speech and language impediments. Most affected individuals also have epilepsy and microcephaly and many tend to have a happy personality with frequent laughing and smiling. Most cases result from deletions in the 15q11.2-q13 region which carries the Ube3a gene. Loss of Ube3a is considered a diagnostic tool.

General information links for Angelman syndrome:
NLM/NIH's Genetic and Rare Disease Information Center
OMIM
Genetics Home Reference
Genes of interest for Angelman syndrome
Human gene Human protein Fly gene
CDKL5 Cyclin-dependent kinase-like 5 ??
MECP2 Methyl-CpG-binding protein 2 ??
UBE3A Ubiquitin-protein ligase E3A Ube3a

Stocks for studying Angelman syndrome
Relevant gene in stock Fly disease model or related mutation or transgene Stk # Comments
Ube3a P{TRiP.JF03406}attP2 31972 Expresses dsRNA for RNAi of Ube3a (FBgn0061469) under UAS control
Ube3a P{TRiP.HMC04528}attP40 57151 Expresses dsRNA for RNAi of Ube3a (FBgn0061469) under UAS control.