Pskh1^b2b1230Clo

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at coding nucleotide 656 in exon 2 of the cDNA (c.656T>C, NM_173432). this changes the leucine residue to proline at position 219 of the encoded protein (p.L219P). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Pskh1b2b1230Clo, and may be present in stocks carrying this mutation.