Trp53tm4Rivm
Targeted Allele Detail
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Symbol: |
Trp53tm4Rivm |
Name: |
transformation related protein 53; targeted mutation 4, National Institute of Public Health and Environmental Protection (RIVM) |
MGI ID: |
MGI:4457388 |
Synonyms: |
TgH(Tp53.hex4.72R-R270H(c))rivm, Trp53tm4Hvs |
Gene: |
Trp53 Location: Chr11:69471185-69482699 bp, + strand Genetic Position: Chr11, 42.83 cM, cytoband B2-C
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Alliance: |
Trp53tm4Rivm page
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Germline Transmission: |
Earliest citation of germline transmission:
J:94077
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Parent Cell Line: |
E14 (ES Cell)
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Strain of Origin: |
129P2/OlaHsd
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Allele Type: |
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Targeted |
Mutations: |
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Insertion, Intragenic deletion
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Mutation details: 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 Exon 4 has been replaced by exon 4 of the human TRP53 gene, with the human arginine variant at codon 72 (dbSNP:rs1042522; 72R).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)
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The R270H mutation in exon 8 corresponds to TRP53 R273H (dbSNP:rs28934576), MIM *191170.0002, which is associated with Li-Fraumeni Syndrome I.
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Original: |
J:94077 Mutant Mouse Regional Resource Centers, Information obtained from the Mutant Mouse Regional Resource Centers (MMRRC). Unpublished. 2004-2015; |
All: |
1 reference(s) |
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