Phenotypes Associated with This Genotype

Genotype
MGI:3579508

• Allelic Composition: Park7^tm1Shn/Park7^tm1Shn
• Genetic Background: involves: 129 * C57BL/6

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

nervous system

nervous system phenotype ( J:134518 )

N • brain histology reveals no abnormal morphology in substantia nigra, striatum or astrocytes in 24-27 month old mice

N • dopaminergic or noradrenergic neuron loss is not detected

N • striatal dopamine levels are similar to control

N • no inclusions are detected in the substantia nigra or in noradrengeric neurons of the locus coeruleus

abnormal action potential ( J:98436 )

• nigral neurons (dopaminergic neurons) exhibited increased action potential frequency in response to dopamine, indicating a much shorter response to dopamine than in wildtype

absent long-term depression ( J:98436 )

• long term depression was absent in medium spiny neurons, however long term potentiation and cortically-evoked excitatory postsynaptic potentials were normal

abnormal neurotransmitter uptake ( J:98436 )

• evoked dopamine overflow in the striatum was reduced, primarily as a result of increased dopamine uptake, however had normal numbers of nigral dopaminergic neurons

behavior/neurological

behavior/neurological phenotype ( J:134518 )

N • performance on the rotarod and in acoustic startle response is similar to control

abnormal stationary movement ( J:134518 )

• 18-25 month old mice exhibit fewer instances of stereotyped behavior in an open field test as compared to controls

abnormal locomotor activation ( J:134518 )

• 18-25 month old mice exhibit decreased horizontal activity in an open field test as compared to controls

decreased vertical activity ( J:98436 )

• reduced vertical activity and time spent rearing at 3 months of age

bradykinesia ( J:98436 )

• marked reduction in horizontal activity and the time spent moving and had fewer instances of stereotyped behavior at 3 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease 7		DOID:0060370	OMIM:606324	J:98436