Phenotypes Associated with This Genotype

Genotype
MGI:3576369

• Allelic Composition: Park7^tm1Dsp/Park7^tm1Dsp
• Genetic Background: B6.129P2-Park7^tm1Dsp

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

abnormal physiological response to xenobiotic ( J:97366 )

• mice show increased striatal denervation and dopaminergic neuron loss induced by 1-methyl-4pheny-1,2,3,6-terahydropyrindine

• mutant embryonic cortical neurons show increased sensitivity to oxidative insults

behavior/neurological

abnormal behavioral response to xenobiotic ( J:97366 )

• mice show hypo-locomotion when subjected to amphetamine challenge

abnormal motor capabilities/coordination/movement ( J:190315 )

• 14-16 month old mice exhibit a mild motor defect on the pole test

• however, affected mice at 2, 6, and 12 months of age do not exhibit a decrease in gross motor function or in drug-induced rotational behavior

decreased grip strength ( J:190315 )

• 14-16 month old mice exhibit a mild motor defect on the grid test

nervous system

abnormal substantia nigra pars compacta morphology ( J:190315 )

• affected mice show a reduction of dopaminergic neurons in the substantia nigra pars compacta

• the remaining fibers in the substantia nigra pars compacta exhibit an elevated number of shortened processes with neuritic beading

• 15 month old mice exhibit a decreased number of sprouting processes in the substantia nigra pars compacta region

abnormal locus ceruleus morphology ( J:190315 )

• aged mice exhibit a reduction in Th-positive cells in the locus ceruleus

abnormal striatum morphology ( J:190315 )

• 15 month old mice show a decrease in dopaminergic-synthesizing TH-positive striatal terminals

loss of dopaminergic neurons ( J:190315 )

• mice exhibit unilateral dopamine cell loss in the substantia nigra pars compacta that progresses to bilateral loss of the nigrostriatal axis with age

neuron degeneration ( J:190315 )

• a subset of mice show unilateral substantia nigra pars compacta degeneration as early as 2 months of age, with a 42.9% penetrance peaking at 12 months of age

• 15 month old mice show bilateral nerve cell loss in the substantia nigra pars compacta

• aged mice exhibit a reduction in Th-positive cells in the locus ceruleus

• however, the ventral tegmental area is mostly spared

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease 7		DOID:0060370	OMIM:606324	J:190315