Setbp1^em2Lutzy

CRISPR/Cas9 genome editing is used to insert a S858R point mutation (AGC to AGG on the sense strand) using guide RNA [sense strand; GAGACTATCCCGAGCGACAG] in combination with stranded oligonucleotide donor DNAs [antisense strand; GGAACAGAAGTCGAAAGAGTACCTCCGCCGGGATTCTGAACTCTTCTCTGCTTGGTCGGAGGTGCTGTTGTTGTCTGTCCCGATGCCACTGTCCCTCGGGATAGTCTCCTCGCTGTGGGACTCACTC]. The S858R point mutation associated with Schinzel-Giedion midface retraction syndrome, and Mental retardation, autosomal dominant 29. (J:101977)