Ecel1^em2Hiki

CRISPR/Cas9 technology generated a G to A missense mutation at position 1819 in exon 13, resulting in a glycine to serine substitution at amino acid 607. Quantitative real time PCR shows that mRNA level is decreased and Western blot analysis indicates reduced protein expression. Sequencing analyses on the TA cloned RT-PCR products indicate the occurrence of splicing defects, with an aberrant transcript with intron retention containing a nucleotide sequence corresponding to a translation termination codon, likely inducing mRNA degradation. (J:260240)