Ecel1^em1Hiki

CRISPR/Cas9 technology generated a pathogenic T to C missense mutation in exon 18 resulting in a cysteine to arginine substitution at amino acid 760 (C760R). Quantitative real-time PCR indicates that mRNA is upregulated in the spinal cord by 20%. Western blot analysis indicates that only one product of posttranslational modification is detected compared to two different ones in wild-type spinal cords. (J:262090)