Pcdha9^b2b635.1Clo

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 a C to T substitution at coding nucleotide 2378 in exon 1 of the cdNA (c.2378C>T, NM_138661) This changes the proline residue to leucine at position 793 of the encoded protein (p.P793L). The mutant phenotype in line 635 segregates with distinct mutations in two genes, Sap130 and Pcdha9. See also Sap130b2b635.2Clo. (J:242757)