Hand1^tm5Abfi

The G in codon 126 (alanine) was deleted resulting in an alanine to proline substitution and producing a 13 amino acid frame shift ending in a termination codon. A loxP-flanked neomycin cassette (Flox STOP Neo) was inserted upstream of the exon containing the mutation. Cre-excision of the stop cassette results in the expression of the mutant. This mutation was identified in individuals with hypoplastic hearts (from the Leipzig University fixed tissue collection). (J:311466)