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Phenotypes Associated with This Genotype
Genotype
MGI:5297858
Allelic
Composition
Tg(Prnp-SNCA*A53T)23Mkle/0
Genetic
Background
involves: C3H/HeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Prnp-SNCA*A53T)23Mkle mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• within 14-21 days of onset of motor problems and disease onset, mutants rapidly progress to death most likely due to inability to feed and drink (J:77344)
• within 14-21 days of onset of motor problems and disease onset, mutants rapidly progress to death most likely due to inability to feed and drink (J:77344)

nervous system
• average age of onset of clinical abnormalities is 10.1 +/- 1.2 months (J:77344)
• neuropathological abnormalities develop before motor dysfunction is visible (J:77344)
• average age of onset of clinical abnormalities is 10.1 +/- 1.2 months (J:77344)
• neuropathological abnormalities develop before motor dysfunction is visible (J:77344)
• astroglial reaction is seen in the midbrain, deep cerebellar nuclei, brainstem and spinal cord, indicating neurodegeneration, but not in the cortex, hippocampus, thalamus, and caudate/putamen (J:77344)
• astroglial reaction is seen in the midbrain, deep cerebellar nuclei, brainstem and spinal cord, indicating neurodegeneration, but not in the cortex, hippocampus, thalamus, and caudate/putamen (J:77344)
• mutants exhibit accumulation of ubiquitin and phosphorylated Nefh (NF-H) in perikarya and neurites (J:77344)
• affected neurons contain fibrillar inclusions (J:77344)
• abnormal neuronal accumulations are not seen in mutants younger than 4 months of age (J:77344)
• mutants exhibit accumulation of ubiquitin and phosphorylated Nefh (NF-H) in perikarya and neurites (J:77344)
• affected neurons contain fibrillar inclusions (J:77344)
• abnormal neuronal accumulations are not seen in mutants younger than 4 months of age (J:77344)
• mutants exhibit accumulation of alpha-synuclein in neuronal cell bodies and neurites of the midbrain, cerebellum, brainstem and spinal cord (J:77344)
• mutants exhibit accumulation of alpha-synuclein in neuronal cell bodies and neurites of the midbrain, cerebellum, brainstem and spinal cord (J:77344)
• spinal cord exhibits astrocytic response and ubiquitin and alpha- synuclein accumulation in ventral horn motor neurons (J:77344)
• spinal cord exhibits astrocytic response and ubiquitin and alpha- synuclein accumulation in ventral horn motor neurons (J:77344)
• mutants develop adult-onset neurodegenerative disease (J:77344)
• astroglial reaction is seen in the midbrain, deep cerebellar nuclei, brainstem and spinal cord, indicating neurodegeneration (J:77344)
• mutants develop adult-onset neurodegenerative disease (J:77344)
• astroglial reaction is seen in the midbrain, deep cerebellar nuclei, brainstem and spinal cord, indicating neurodegeneration (J:77344)

behavior/neurological
• mutants develop motor signs characterized by sustained posturing, reduced amplitude, and abundance of spontaneous activity with age (J:77344)
• mutants develop motor signs characterized by sustained posturing, reduced amplitude, and abundance of spontaneous activity with age (J:77344)
• mutants eventually develop progressive loss of righting reflex (J:77344)
• mutants eventually develop progressive loss of righting reflex (J:77344)
• mutants eventually develop paralysis (J:77344)
• mutants eventually develop paralysis (J:77344)

muscle

Mouse Models of Human Disease
OMIM ID Ref(s)
Parkinson Disease 1, Autosomal Dominant; PARK1 168601 J:77344


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
01/26/2016
MGI 6.02
The Jackson Laboratory