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Trp53tm1Tyj
Targeted Allele Detail
Nomenclature
Symbol: Trp53tm1Tyj
Name: transformation related protein 53; targeted mutation 1, Tyler Jacks
MGI ID: MGI:1857263
Synonyms: p53-, p53delta, p53KO, p53null, Trp53-, Trp53KO
Gene: Trp53  Location: Chr11:69580359-69591873 bp, + strand  Genetic Position: Chr11, 42.83 cM, cytoband B2-C
Persistent hyperplastic primary vitreous (PHPV) in Cdkn2atm1Cjs/Cdkn2atm1Cjs mice is p53 independent

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:17728
Parent Cell Line:  D3 (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation details
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 46 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 8 strains available      Cell Lines: 0 lines available
Carrying any Trp53 Mutation:  139 strains or lines available
Notes
This mutant allele was produced by a targeted neo insertion into the Trp53 locus. Homozygotes show no visible phenotype but develop tumors at 3-6 months of age. Heterozygotes develop tumors at 10 months of age. These mice model some of the features of human Li-Fraumeni syndrome (OMIM 151623), a form of familial breast cancer with mutations in TRP53 (J:16022)(J:16023) A specific human mutation found in hepatocellular carcinomas caused by hepatitis B infection or by aflatoxin exposure has been created in a mouse model, resulting in a similar gene product (J:27363).
Phenotypic Similarity to Human Syndrome: Glioblastoma Multiforme (J:149662)
Phenotypic Similarity to Human Syndrome: Astrocytoma (J:64364 and J:134611)
Phenotypic Similarity to Human Syndrome: activated B-cell diffuse large-cell lymphoma in mice hemizygous for Tg(Ly6e-MALT1)#Isg and homozygous for this allele (ABC-DLBCL, J:185590)

References
Original:  J:17728 Jacks T, et al., Tumor spectrum analysis in p53-mutant mice. Curr Biol. 1994 Jan 1;4(1):1-7
All:  733 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory