Cfc1^b2b970Clo

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The causitive molecular lesion for the cardiovascular phenotypes is a T to A substitution at coding nucleotide postition 68 in exon 2 of the cDNA (c.68T>A, Ref seq NM_007685). This changes the valine residue to glutamic acid at position 23 in the encoded protein (p.V23E). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cfc1b2b970Clo, and may be present in stocks carrying this mutation.