Frem2^b2b1562Clo

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to G substitution at coding nucleotide 6875 in exon 11 of the cDNA (c.6875A>G, NM_172862). This changes the tyrosine residue to cysteine at position 2292 of the encoded protein (p.Y2292C). Additional incidental mutations were detected in sequencing for the causative mutation, Frem2b2b1562Clo, and may be present in stocks carrying this mutation.