Mouse Genome Informatics
tg
    Tg(Pcp2-TBP*)69Hmhl/0
involves: FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
• mutants exhibit clasping when held by the tail
• mutants exhibit ataxia beginning at 2 months of age
• 2 and 4 month old mutants perform poorly on an accelerating rotarod and show continued declines in fall latency on the rod
• treatment of mutants with granulocyte-colony stimulating factor improves rotatod performance
• mutants rear more often during locomotor task than controls
• locomotor hyperactivity, with mutants moving significantly longer distances than controls
• treatment of mutants with granulocyte-colony stimulating factor ameliorates locomotor hyperactivity
• 3 month old mutants exhibit abnormal gait, with impaired step rhythm and reduction in step length compared to controls

nervous system
• marker analysis indicates an increase in inflammation in the cerebella
• treatment of mutants with granulocyte-colony stimulating factor decreases inflammation
• brainstem is reduced compared to controls
• atrophy of the brainstem
• cell loss in the globus pallidus of the subcortical region
• cell loss in the caudate putamen
• cell loss in the accumbens nucleus
• subthalamic nucleus loss
• cell loss in the cerebral cortex
• atrophy of the cerebellum
• Purkinje cell neurite loss
• Purkinje cell density is reduced along the Purkinje cell layer
• treatment of mutants with granulocyte-colony stimulating factor increase in Purkinje dendritic complexity and cell numbers
• Purkinje cell disruption in the molecular layer
• molecular layer is reduced
• loss of neurons in the dentate nucleus
• cerebellar size is reduced
• mutants begin to show reduced cerebellar weight at 6 weeks of age
• treatment of mutants with granulocyte-colony stimulating factor results in partial recovery of cerebellar size
• reactive gliosis is seen in the cerebellum but not the brainstem
• treatment of mutants with granulocyte-colony stimulating factor decreases gliosis
• loss of neurons in the dentate nucleus of the cerebellum
• cell loss in the cerebral cortex, caudate putamen, and globus pallidus of the subcortical region, and the accumbens nucleus
• atrophy and CA1 cell loss of the hippocampus

immune system
• marker analysis indicates an increase in inflammation in the cerebella
• treatment of mutants with granulocyte-colony stimulating factor decreases inflammation

Mouse Models of Human Disease
OMIM IDRef(s)
Spinocerebellar Ataxia 17; SCA17 607136 J:174239