Gli3^tm1Urt

The gene was disrupted by targeting of a PGK-neo cassette to exon 1 via homologous recombination. RT-PCR analysis and sequencing of the product revealed a mutant transcript with abnormal splicing at the 3' end of the thymidine kinase negative selection marker resulting in a frameshift and premature translation termination of Gli3. The mutant protein truncates at amino acid 699 C-terminal to the zinc-finger domain with 21 additional mutant amino acids before the stop codon, similar to the mutation found in human Pallister-Hall syndrome. (J:76496)