Slc38a8^em1Lmon

CRISPR/Cas9 technology using sgRNA 5-CAATACTACCTGTGGCCCC-3 generated a stop codon at proline 196 (p.196Pro*) in exon 4, which is equivalent to human p.199Pro*. This mutation closely resembles one of the first familial mutations reported in oveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis (FHONDA syndrome) patients that have a p.Gln200* mutation. (J:343795)