TABLE 4

Molecular characterization of Pax6 mutations of the mouse

AlleleMutationPositionCodonDomain
Pax62NeuT to CIntron 9, 25′ splice site After 269Homeobox
Pax63NeuA insertExon 7, after 598After 145Linker
Pax64NeuT to CExon 10, 979Ser273 to ProHomeobox
Pax65NeuA to TExon 6, 517Arg119 to StopPaired box
Pax66NeuC to AExon 10, 1092Tyr310 to StopP/S/T
Pax67NeuA to TExon 4, −3Kozak sequence
Pax68NeuC to AExon 10, 1092Tyr310 to StopP/S/T
Pax69NeuTCACAGC deletionExon 5, 261-267After 33Paired box
Pax610NeuC to TExon 6, 469Gln103 to StopPaired box