Gna11^em1Mman

CRISPR/Cas9 technology generated a C to T point mutation at position 178 resulting in a cysteine for arginine change at amino acid 60. Nine other silent bp changes were incorporated to avoid guide recognition of the oligonucleotide template and to create a ScaI restriction site. This mutation is seen in patients with autosomal-dominant hypocalcemia type 2. Three independent lines were generated containing this mutation. (J:280180)