TY - JOUR AU - Korablev, Alexei N. AU - Serova, Irina A. AU - Serov, Oleg L. PY - 2017 DA - 2017/12/28 TI - Generation of megabase-scale deletions, inversions and duplications involving the Contactin-6 gene in mice by CRISPR/Cas9 technology JO - BMC Genetics SP - 112 VL - 18 IS - 1 AB - Copy Number Variation (CNV) of the human CNTN6 gene (encoding the contactin-6 protein), caused by deletions or duplications, is responsible for severe neurodevelopmental impairments, often in combination with facial dysmorphias. Conversely, deleterious point mutations of this gene do not show any clinical phenotypes. The aim of this study is to generate mice carrying large deletions, duplications and inversions involving the Cntn6 gene as a new experimental model to study CNV of the human CNTN6 locus. SN - 1471-2156 UR - https://doi.org/10.1186/s12863-017-0582-7 DO - 10.1186/s12863-017-0582-7 ID - Korablev2017 ER -