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CRISPR/Cas9 technology introduced a seven-nucleotide insertion in exon 1, introducing a premature stop codon at codon 36. The insertion unexpectedly created a new splice donor site which resulted in a deletion of 14 nucleotides in the transcript and a frameshift after codon 35 resulting in an alternate open reading frame that can potentially be translated into a protein 72 amino acids longer than the wild-type protein. Western blot analysis with an N-terminal region antibody showed the expression of this larger protein in homozygotes while a C-terminal antibody confirmed the absence of the normal wild-type protein. (J:324153)