Tg(Prnp-ATXN3*70Q)70.61Olri
Transgene Detail

Summary

• Symbol: Tg(Prnp-ATXN3*70Q)70.61Olri
• Name: transgene insertion 70.61, Olaf Riess
• MGI ID: MGI:5516451
• Transgene: Tg(Prnp-ATXN3*70Q)70.61Olri Location: unknown
• Alliance: Tg(Prnp-ATXN3*70Q)70.61Olri page

Transgene origin

• Strain of Origin: C57BL/6N

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Prnp-ATXN3*70Q)70.61Olri expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  ATXN3 (4287)

  Atxn3

  (MGI:1099442)

• Mutation details: The mouse prion promoter (containing 1140 bp of the prion protein gene upstream of exon 1, the complete exon 1, intron 1, and the first 52 bp of exon 2) drives the expression of the full-length human ATAXIN-3 (ATAXIN-3c isoform that contains an additional ubiquitin-interacting motif at its C terminus) containing 70 CAG repeats. Four lines were created: 70.42, 70.48, 70.61, and 70.66. (J:122993)

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-ATXN3*70Q)70.61Olri/0	involves: C57BL/6N

Phenotypes:

Affected Systems	tg1
show or hide all annotated terms
behavior/neurological	√
abnormal behavior	√
decreased grooming behavior	√
limb grasping	√
tremors	√
impaired coordination	√
abnormal gait	√
short stride length	√
decreased locomotor activity	√
growth/size/body	√
decreased body size	√
decreased body weight	√
hearing/vestibular/ear	N
hearing/vestibular/ear phenotype	N
mortality/aging	√
premature death	√
nervous system	√
abnormal cerebellum morphology	√
abnormal Purkinje cell morphology	√
neuronal intranuclear inclusions	√
abnormal nervous system physiology	√
skeleton	√
kyphosis	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	tg1
Machado-Joseph disease IDs Machado-Joseph disease       DOID:1440 MESH:D017827 NCI:C84830 OMIM:109150 ORDO:98757 UMLS_CUI:C0024408 Close	√

Expression

In Structures Affected by this Mutation:

4 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:122993 Bichelmeier U, et al., Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence. J Neurosci. 2007 Jul 11;27(28):7418-28
• All: 2 reference(s)