General Information

Mouse: (C3Heyl-/-x CB57BL/6)F1 x  C3Heyl-/-

Mice with a homozygous G insertion in exon 4 (416insG) of the Pitx3 gene. Mice also have two single nucleotide polymorphisms in the Pitx3 gene (C345A and C986A)

Corresponding human genotype: Single nucleotide polymorphisms (SNP) in the Pitx3 gene may represent a higher risk of developing Parkinson’s disease in certain populations.

Mutated gene: Pitx3

References: Rosemann 2010

Loss of dopaminergic neurons

  • 12 weeks: significant reduction of of TH and dopamine transporter expression are observed in both the SN and the VTA

Dopamine Homeostasis

  • Not reported

Inclusions

  • Not reported

Motor Behaviours

  • 12 weeks: sex-specific alterations are observed in spontaneous activity with female mice exhibiting reduced total distance travelled, mean velocity, rearing, board entry and hole exploration. This phenotype could be related to anxiety-related behavior in females.
    Rotarod test show no differences compared to control.
    Reduced grip strength is observed in male and female Eyl mice

Response to dopaminergic treatment

  • Not reported

Non motor Behaviours

  • 12 weeks: mice show hyperalgesia toward thermal, mechanical and chemical stimuli. Female Eyl mice show increased anxiety. Conversely, male show a decreased anxiety-related behaviour compared to controls.
  • 10-16 weeks: depression-like symptoms (anhedonia), evidenced using the sucrose preference test, is observed in Eyl mice. This symptom can be reversed by chronic treatment with an anticholinergic antidepressant (imipramine).

Electrophysiology

  • Not reported

Neuroinflammation

  • Not reported

Updated 21-06-2018

 

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