Primary Identifier | MGI:6376284 | Allele Type | Endonuclease-mediated |
Gene | Gna11 | Strain of Origin | C57BL/6NCrl |
Is Recombinase | false | Is Wild Type | false |
molecularNote | 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. |