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 Exon 4 has been replaced by exon 4 of the human TRP53 gene, with the human arginine variant at codon 72 (dbSNP:rs1042522; 72R).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. (J:94077)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count