Sap130^b2b635.2Clo

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is one of five changes identified in the mutant line b2b635Clo, also called Ohia. The molecular lesion in this gene is T to C substitution at nucleotide +2 after coding nucleotide 1213 (c.1213+2T>C) in intron 10. This changes splice donor site G-GT to G-GC (which is assumed to be less efficient). This is predicted to cause an in-frame deletion of exon 10 in splice form a, a 76 bp insertion in intron 10 in splice form b, and a deletion of exons 9 and 10 with frameshift and premature termination in splice form c. The mutant phenotype in line 635 segregates with distinct mutations in two genes, Sap130 and Pcdha9. See also Pcdha9b2b635.1Clo. (J:242757)