| Primary Identifier | MGI:2182576 | Allele Type | Targeted |
| Gene | Gli3 | Transmission | Germline |
| Strain of Origin | 129P2/OlaHsd | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | 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. |
