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Trp53tm2.1Tyj
Targeted Allele Detail

Nomenclature
Symbol: Trp53tm2.1Tyj
Name: transformation related protein 53; targeted mutation 2.1, Tyler Jacks
MGI ID: MGI:3039264
Synonyms: p53 R172H, p53R172H, TrpR172H
Gene: Trp53   Location: Chr11:69393861-69405375 bp, + strand    Genetic Position: Chr11, 39.0 cM, cytoband B2-C
Mutation
origin
Germline Transmission: Earliest citation of germline transmission: J:95316
Parent Cell Line: J1 (ES Cell)
Strain of Origin: 129S4/SvJae
Mutation
description
Allele Type: Targeted (knock-in)
Mutation: Nucleotide substitutions
  The loxP flanked stop cassette was removed from Trp53tm2Tyj via cre-mediated recombination, leaving an R172H missense mutation in exon 5. Quantitative real-time PCR confirmed that the point mutation allele is expressed at a level comparable to wild-type. (J:95316)
Find Mice (IMSR) Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation: Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Trp53 Mutation: 125 strains or lines available
Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms

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Genotypes are listed in the next section.

      Key:  
hm homozygous ht heterozygous
cn conditional genotype  cx complex: > 1 genome feature
tg involves transgenes ot other: hemizygous, indeterminate,...
N normal phenotype expected model not found
Affected SystemsGenotypes:
 
ht1
 
ht2
  
cellular          
 
  
lethality/prenatal-perinatal          
 
  
life span/aging          
  
skeleton          
 
  
tumorigenesis          
 
  
Disease Models          
Phenotypic
data by
genotype
Phenotypic Data by Genotype

(show or hide all phenotypic details)

GenotypeAllelic CompositionGenetic Background
  
 ht1   Disease Model  
Trp53tm2.1Tyj/Trp53+ involves: 129S4/SvJae
  
 ht2   Disease Model  
Trp53tm1Tyj/Trp53tm2.1Tyj involves: 129S2/SvPas * 129S4/SvJae
Disease
models
Mouse Models
of Human Disease
NoteGenotypeRef(s)
 
Allelic Composition
Genetic Background
Models with phenotypic similarity to human diseases associated with human TP53.
Li-Fraumeni Syndrome 1; LFS1
OMIM ID: 151623
 
 
ht2
Trp53tm1Tyj/Trp53tm2.1Tyjinvolves: 129S2/SvPas * 129S4/SvJaeJ:95316
 
 
ht1
Trp53tm2.1Tyj/Trp53+involves: 129S4/SvJaeJ:95316
References
Original: J:95316 Olive KP et al., "Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome." Cell 2004 Dec 17;119(6):847-60
All: 4 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
11/20/2009
MGI_4.31
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