Megf8^b2b288Clo

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh.The causitive molecular lesion for the cardiovascular phenotypes is an A to T substitution at coding nucleotide 3641 in exon 21 of the cDNA (c.3641A>T, NM_001160400). This changes the asparagine residue to isoleucine at position 1214 in the encoded protein (p.N1214I). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Megf8b2b288Clo, and may be present in stocks carrying this mutation.