Slc4a5^tvrm77

This ENU-induced T to A transversion in intron 3 disrupts a 5-prime splice donor sequence and has been shown to cause two novel splicing events in retinal pigment epithelium, one of which includes a portion of the intron downstream of exon 3 and is predicted to encode a short N-terminal polypeptide with 11 non-native amino acids and premature stop codon, and the other of which exon 3 is skipped leading to premature termination. (J:321062)