Tg(Prnp-TBP*)71-27Xjl
Transgene Detail

Summary

• Symbol: Tg(Prnp-TBP*)71-27Xjl
• Name: transgene insertion 71-27, Xiao-Jiang Li
• MGI ID: MGI:3772868
• Synonyms: TBP-71Q-27
• Transgene: Tg(Prnp-TBP*)71-27Xjl Location: unknown
• Alliance: Tg(Prnp-TBP*)71-27Xjl page

Transgene origin

• Strain of Origin: FVB/N

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Prnp-TBP*)71-27Xjl expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  TBP (6908)

  Tbp	(MGI:101838)

• Mutation details: A transgenic construct containing the human TATA box binding protein, TBP, containing a 71 polyQ repeat expansion, under the control of the mouse prion protein promoter was injected into fertilized FVB/N mouse eggs. A second founder line TBP-71Q-27 was established, in addition to line 71Q-16. The 71 polyQ-expansion is detected in the cerebral cortex and cerebellum by Western blot analysis. (J:130775)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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tg1  Disease Model	Tg(Prnp-TBP*)71-27Xjl/0	FVB/N-Tg(Prnp-TBP*)71-27Xjl

Phenotypes:

Affected Systems	tg1
show or hide all annotated terms
behavior/neurological	√
poor grooming	√
limb grasping	√
tremors	√
impaired coordination	√
sporadic seizures	√
growth/size/body	√
decreased body size	√
weight loss	√
mortality/aging	√
premature death	√
nervous system	√
sporadic seizures	√
gliosis	√
abnormal neuron morphology	√
Purkinje cell degeneration	√
abnormal neurite morphology	√
axon degeneration	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	tg1
spinocerebellar ataxia type 17 IDs spinocerebellar ataxia type 17       DOID:0050967 OMIM:607136 Close	√

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available

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)