| Primary Identifier | MGI:4457141 | Allele Type | Targeted |
| Attribute String | Conditional ready, Humanized sequence, Inserted expressed sequence, Null/knockout | Gene | Trp53 |
| Transmission | Germline | Strain of Origin | 129P2/OlaHsd |
| Is Recombinase | false | Is Wild Type | false |
| description | The p.R270H mutation in exon 8 corresponds to TRP53 p.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 Exon 4 has been replaced by exon 4 of the human TRP53 gene, with the human proline variant at codon 72 (dbSNP:rs1042522; 72P). Codon 270, in exon 8, which corresponds to human TRP53 codon 273, has been changed from the wild-type arginine to histidine (p.R270H). Upon Cre recombinase mediated excision of the STOP element, the mutant gene is activated in the tissues where Cre is expressed. |
