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Phenotypes Associated with This Genotype
involves: C3H * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Prnp-SNCA*A53T)83Vle mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

• by 8 months of age, begin to lose weight

• over time become unable to feed themselves
• by 8 months of age, grooming is neglected
• unable to right themselves when placed on their sides
• temulous motion is seen in some mice, possibly related to attempted muscular activity
• eventually are unable to stand up and support their own body weight
• develop hunched backs by 8 months of age
• 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
• reduced ambulation by 8 months of age
• 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
• astrocytic gliosis
• endoneurial space is increased and axons are filled with vacuoles in the ventral roots of aged mice
• 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
• show signs of neurodegeneration by 8 months of age and develop neurodegenerative disease within 16 months of age
• significant axonal degeneration in aged mice
• following axonal degeneration, the myelin sheath loosens and unravels

• exhibit sparse neurogenic muscle atrophy

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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.12
The Jackson Laboratory