| Primary Identifier | MGI:4457388 | Allele Type | Targeted |
| Gene | Trp53 | Transmission | Germline |
| Strain of Origin | 129P2/OlaHsd | Is Recombinase | false |
| Is Wild Type | false |
| description | The R270H mutation in exon 8 corresponds to TRP53 R273H (dbSNP:rs28934576), MIM *191170.0002, which is associated with Li-Fraumeni Syndrome I. |
| molecularNote | This allele contains a loxP-flanked STOP element - composed of a puromycin resistance cassette, in reverse orientation, followed by a series of four SV40 polyadenylation signals flanked by an adenoviral splice acceptor and splice donor - in intron 1, transcriptionally inactivating the gene. Exon 4 has been replaced by exon 4 of the human TRP53 gene, with the human arginine variant at codon 72 (dbSNP:rs1042522; 72R). Codon 270, in exon 8, which corresponds to human TRP53 codon 273, has been changed from the wild-type arginine to histidine (R270H). Upon Cre recombinase mediated excision of the STOP element, the mutant gene is activated in the tissues where Cre is expressed. |
