Cep290^b2b1752Clo

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at nucleotide +2 following coding nucleotide 1189 (c.1189+2T>C, NM_146009) in intron 13. This changes splice donor site G-GT to G-GC (which is assumed to be less efficient). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cep290b2b1752Clo, and may be present in stocks carrying this mutation.