Phenotypes Associated with This Genotype

Genotype
MGI:3603036

• Allelic Composition: Tg(Prnp-SNCA*A53T)83Vle/Tg(Prnp-SNCA*A53T)83Vle
• Genetic Background: involves: C3H * C57BL/6

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

mortality/aging

premature death ( J:76657 )

growth/size/body

weight loss ( J:76657 )

• by 8 months of age, begin to lose weight

behavior/neurological

aphagia ( J:76657 )

• over time become unable to feed themselves

decreased grooming behavior ( J:76657 )

• by 8 months of age, grooming is neglected

abnormal motor capabilities/coordination/movement ( J:76657 )

impaired righting response ( J:76657 )

• unable to right themselves when placed on their sides

tremors ( J:76657 )

• temulous motion is seen in some mice, possibly related to attempted muscular activity

weakness ( J:76657 )

• eventually are unable to stand up and support their own body weight

hunched posture ( J:76657 )

• develop hunched backs by 8 months of age

akinesia ( J:76657 )

• by 8 months of age, exhibit severe movement impairment with resistance to passive movement and partial paralysis of limbs, accompanied by periods of freezing of hindlimb

abnormal gait ( J:76657 )

• reduced ambulation by 8 months of age

paresis ( J:76657 )

• partial paralysis of limbs is observed by 8 months of age, beginning at a hindleg but affecting all limbs within a few days

nervous system

gliosis ( J:76657 )

• astrocytic gliosis

abnormal spinal nerve morphology ( J:76657 )

• endoneurial space is increased and axons are filled with vacuoles in the ventral roots of aged mice

alpha-synuclein inclusion body ( J:76657 )

• develop age-dependent intracytoplasmic neuronal alpha-synuclein inclusions that contain 10-16 nm wide fibrils similar to those seen in human alpha-synucleinopathies, with dense accumulation in the spinal cord, brainstem, cerebellum, and thalamus

neurodegeneration ( J:76657 )

• show signs of neurodegeneration by 8 months of age and develop neurodegenerative disease within 16 months of age

axon degeneration ( J:76657 )

• significant axonal degeneration in aged mice

abnormal myelination ( J:76657 )

• following axonal degeneration, the myelin sheath loosens and unravels

muscle

abnormal gastrocnemius morphology ( J:76657 )

• exhibit sparse neurogenic muscle atrophy

limbs/digits/tail

abnormal gastrocnemius morphology ( J:76657 )

• exhibit sparse neurogenic muscle atrophy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease 1		DOID:0060367	OMIM:168601	J:76657