Phenotypes Associated with This Genotype

Genotype
MGI:5471773

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

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

cellular

abnormal autophagy ( J:194153 )

• chaperone-mediated autophagy is impaired in primary neuronal cultures as determined by the use of a photoactivatable fluorescent reporter to visualize movement from cytosol to lysosome

nervous system

alpha-synuclein inclusion body ( J:194153 )

• exogenous and endogenous alpha-synuclein is found associated to lysosomes in primary neuronal cultures

behavior/neurological

behavior/neurological phenotype ( J:204940 )

N • mutants do not display anxiety in the elevated plus maze or depression-like behaviors in the tail suspension and forced swimming tests with age, and exhibit normal grip strength, normal performance on the accelerated rotarod, normal olfaction in the buried and block tests, normal sensitivity to pain with the formalin test, and normal learning abilities in the passive avoidance task

abnormal locomotor activation ( J:204940 )

• mutants increase their fine movements at 16 months of age compared to controls

decreased vertical activity ( J:204940 )

• mutants display subtle motor deficits only after 16 months of age, rearing much less than controls in the standard cylinder test at 20 months of age but not from 4 to 16 months of age

• in the open field test, mutants show less rearing from 16 months of age

decreased locomotor activity ( J:204940 )

• from 16 months of age, mutants are less active than controls in the open field test and they spend less time in the center than controls

digestive/alimentary system

abnormal digestive system physiology ( J:204940 )

• mutants exhibit gastrointestinal dysfunction from 6 months of age, showing differences in the water content and weight of dry stool collection that oscillate between constipation at 6 months of age, normal levels of water from 9 and 12 months of age, and diarrhea after 12 months of age

diarrhea ( J:204940 )

• the amount of water in stool becomes higher than in controls after 12 months of age, with a maximum at 14 months of age

constipation ( J:204940 )

• at 6 months of age, mutants are constipated, with lower amounts of water in the stool and lower total dry stool weight

homeostasis/metabolism

abnormal autophagy ( J:194153 )

• chaperone-mediated autophagy is impaired in primary neuronal cultures as determined by the use of a photoactivatable fluorescent reporter to visualize movement from cytosol to lysosome

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease 8		DOID:0060371	OMIM:607060	J:204940