Phenotypes Associated with This Genotype

Genotype
MGI:3848697

• Allelic Composition: Khdrbs2^{Tg(LRRK2*R1441G)135Cjli}/Khdrbs2⁺
• Genetic Background: FVB-Khdrbs2^{Tg(LRRK2*R1441G)135Cjli}

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

behavior/neurological

abnormal locomotor activation ( J:149135 )

• reduced mobility and immobility in severely affected animals are reversed by administration of levodopa and apomorphine

akinesia ( J:149135 )

• by 10-12 months a visually apparent immobility is observed, without accompanying weakness; this is observed in the home cage and in the open field

decreased locomotor activity ( J:149135 )

• progressively reduced mobility is observed

nervous system

nervous system phenotype ( J:149135 )

N • no observable cell death or gliosis is observed in the spinal cord, and no abnormalities in general brain structure are observed in 10-12 month old mice

tau protein deposits ( J:149135 )

• phosphorylated tau appears to be localized in abnormal axonal swellings and dystrophic neurites in the dorsal striatum

abnormal dopaminergic neuron morphology ( J:149135 )

• while neurons in the substantia nigra pars compacta (SNpc) and ventral tegmental area are normal in number and anatomical organization, SNpc neurons have reduced cell body sized and marked reduction in number of dendrites in the substantia nigra pars reticulata

abnormal axon morphology ( J:149135 )

• in striatum and piriform cortex, dopaminergic axons appear to be beaded or fragmented and exhibit spheroids and dystrophic neurites

homeostasis/metabolism

decreased dopamine level ( J:149135 )

• in striatum, levels of dopamine are reduced significantly

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease 8		DOID:0060371	OMIM:607060	J:149135