Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice

@article{Hoogenraad2002TargetedMO,
  title={Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice},
  author={Casper C Hoogenraad and Bas Koekkoek and Anna Akhmanova and Harm J. Krugers and Bjorn R. Dortland and Marja Miedema and Arjan van Alphen and Werner M. Kistler and Martine Jaegle and Manoussos Koutsourakis and Nadja Van Camp and Marleen Verhoye and Annemie van der Linden and Irina Kaverina and Frank Grosveld and Chris I. De Zeeuw and Niels Galjart},
  journal={Nature Genetics},
  year={2002},
  volume={32},
  pages={116-127}
}
Williams syndrome is a neurodevelopmental disorder caused by the hemizygous deletion of 1.6 Mb on human chromosome 7q11.23. This region comprises the gene CYLN2, encoding CLIP-115, a microtubule-binding protein of 115 kD. Using a gene-targeting approach, we provide evidence that mice with haploinsufficiency for Cyln2 have features reminiscent of Williams syndrome, including mild growth deficiency, brain abnormalities, hippocampal dysfunction and particular deficits in motor coordination… CONTINUE READING

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