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Tg(Prnp-TBP*)13Xjl
Transgene Detail

Nomenclature
Symbol: Tg(Prnp-TBP*)13Xjl
Name: transgene insertion 13, Xiao-Jiang Li
MGI ID: MGI:3772701
Synonyms: TBP-13Q
Transgene: Tg(Prnp-TBP*)13Xjl   Location: unknown    
Transgene
origin
Strain of Origin: FVB/N
Transgene
description
Transgene Type: Transgenic (random, expressed)
Mutation: Insertion
  A transgenic construct containing the human TATA box binding protein, TBP, containing a 13 polyQ repeat expansion, under the control of the mouse prion protein promoter was injected into fertilized FVB/N mouse eggs. Founder line TBP-13Q was established. Western blot analysis could not distinguish between endogenous and mutant TBP protein. Immunoreactive TBP protein was not detected in 4 month old brains. (J:130775)
Find Mice (IMSR) Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation: Mouse Strains: 1 strain available      Cell Lines: 0 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:
 
tg1
  
behavior/neurological          
N
  
life span/aging          
N
  
nervous system          
N
 
  
Disease Models          
Phenotypic
data by
genotype
Phenotypic Data by Genotype

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GenotypeAllelic CompositionGenetic Background
  
 tg1   
Tg(Prnp-TBP*)13Xjl/0 FVB/N-Tg(Prnp-TBP*)13Xjl
Disease
models
Mouse Models
of Human Disease
NoteGenotypeRef(s)
 
Allelic Composition
Genetic Background
No similarity to expected human disease phenotype was found.1
NOT Spinocerebellar Ataxia 17; SCA17
OMIM ID: 607136
 
 
tg1
Tg(Prnp-TBP*)13Xjl/0FVB/N-Tg(Prnp-TBP*)13XjlJ:130775
1One or more human genes may be associated with the human disease. The mouse genotype may involve mutations in orthologous genes, but the phenotype did not resemble the human disease.
References
Original: J:130775 Friedman MJ et al., "Polyglutamine domain modulates the TBP-TFIIB interaction: implications for its normal function and neurodegeneration." Nat Neurosci 2007 Dec;10(12):1519-28
All: 1 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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