Smarca4^b2b692Clo

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a C to T substitution at coding nucleotide 1249 in exon 8 of the cDNA (c.1249C>T, NM_011417). This changes the arginine residue to cysteine at position 417 of the encoded protein (p.R417C). Additional incidental mutations were detected in sequencing for the causative mutation, Smarca4b2b692Clo, and may be present in stocks carrying this mutation.