Phenotypes associated with this allele

• Allele Symbol: Pink1^tm1Lex
• Allele Name: targeted mutation 1, Lexicon Genetics
• Allele ID: MGI:3847806
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pink1^tm1Lex/Pink1^tm1Lex	involves: 129S5/SvEvBrd * C57BL/6	MGI:3847807

Genotype
MGI:3847807

hm1

• Allelic Composition: Pink1^tm1Lex/Pink1^tm1Lex
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

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

cellular

abnormal lysosome morphology ( J:148903 )

• large lysosomes are observed in cultured cortical neurons

increased neuron apoptosis ( J:148903 )

• cortical neuron cultures have a higher death rate (cytotoxicity) than controls after 20 days of plating

abnormal cellular respiration ( J:148988 )

• the redox state of NADH in neuronal mitochondria is twice as more oxidized than controls

• incubating neurons in pyruvate restores redox state to control values

• neuronal stimulation causes a depolarization of internal mitochondria that is not observed in controls

• this depolarization results from overload of calcium concentrations in the mitochondria that is not observed in wild-type controls

• the basal mitochondrial ROS production in mouse neurons is two fold higher than in controls

abnormal mitochondrial ATP synthesis coupled electron transport ( J:148988 )

• neuronal mitochondria membrane potential is largely maintained by the hydrolysis of ATP by complex V, rather than by respiration

• marked membrane depolarization can be triggered by drugs blocking complex V action

nervous system

abnormal cerebral cortex morphology ( J:148903 )

• cultured cortical neurons have higher rates of apoptosis and contain large lysosomes

abnormal nervous system electrophysiology ( J:148988 )

• neuron stimulation leads to a much higher internal calcium flux than controls

• stimulation also causes a depolarization of neuronal mitochondria that is not observed in controls

• this depolarization results from overload of calcium concentrations in the mitochondria that is not observed in wild-type controls

abnormal neuron physiology ( J:148988 )

• cultured cortical neurons take up less glucose and altered mitochondrial redox states

• the basal cytosolic ROS production in mouse neurons is three fold higher than in controls

• glucose uptake by cultured neurons is only 41% of controls

increased neuron apoptosis ( J:148903 )

• cortical neuron cultures have a higher death rate (cytotoxicity) than controls after 20 days of plating