Analysis Tools|
Allele Symbol Allele Name Allele ID |
Tg(THY1-SNCA*A53T)M53Sud transgene insertion M53, Thomas C Sudhof MGI:3768388 |
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| Summary |
5 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• although mice start to die around 36 weeks of age and all die by 60 weeks of age, survival is extended compared to single Tg(THY1-SNCA*A53T)M53Sud transgenic mice
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• mice exhibit a delay in disease onset compared to single (THY1-SNCA*A53T)M53Sud transgenic mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• double mutants show rescue of lethality observed for Dnajc5-deficient mice; mice live >15 months
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• Golgi cells containing alpha-synuclein aggregates are apoptotic
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• cytoplasmic alpha-synuclein aggregates are seen in Golgi cells of the cerebellum
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most mice die between 10 and 12 months of age
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• mice at 6 months of age show motor activity deficits and 100% of mice at 1 year of age develop rigidity, postural instability, and immobility
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• seen around 8 months of age
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• mice at 1 year of age show postural instability
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• mice develop gait abnormalities, such as jerky movements at around 8 months of age
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• mice develop bradykinesia at around 8 months of age and show progressive deterioration of motor activity to complete immobility by 12 months of age
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• mice begin to show spasticity around 6 months of age
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• apoptosis of nigral neurons and cortical neruons
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• agyrophilic degeneration in the red nucleus, superior cerebellar peduncle, medial lemniscus, and cerebral peduncle
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• striatal interneuron degeneration
• cerebellar interneurons degenerate early in the course of disease
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• degeneration of the ventral midbrain
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• about 60% loss of neurons in the substantia nigra pars compacta
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• apoptotic cells and loss of magnocellular neurons are seen in the red nucleus at endstage disease
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• motor thalamus degeneration; nuclear-specific degeneration is seen in the ventral anterior and ventrolateral nucleus thalamic nuclei and the central medial, central lateral, and paracentral thalamic nuclie are also affected
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• approximate 40% loss of neurons in the ventral anterior and/or ventral lateral thalamic nuclei of 12 month old mice
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• modest neuropil punctate degeneration in the stratum radiatum of CA3 and stratum lacunosum-moleculare of CA1 of the hippocampus
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• degeneration of the cerebral cortex
• ventricular system in the cerebral cortex is dilated at endstage disease
• thinning of the cortical mantle
• cell death is increased in layer V of the cerebral cortex at 8 and 12 months of age
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• enhanced autophagy in cortical pyramidal neurons
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• reduction in the thickness of the sensorimotor cortical gray matter
• mice at endstage disease show degeneration of the deep cerebellar nuclei
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• reduction in the thickness of the subcortical white matter
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• agyrophilic degeneration in the superior cerebellar peduncle
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• degenerating cell bodies are seen in the granule cell layer, apoptotic cells in the molecular layers and terminal degeneration at the granule cell layer-Purkinje cell layer border as early as 1 month of age
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• degeneration of cerebellar interpositus nucleus
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• nigral neuron degeneration, with about 60% loss of neurons
• apoptotic degeneration of interneurons of young mice, with degeneration of striatal and cerebellar interneurons
• about 60% loss of red nucleus neurons at endstage disease
• approximate 40% loss of neurons in the ventral anterior and/or ventral lateral thalamic nuclei of 12 month old mice
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• some degenerating substantia nigra pars compacta neurons show cytoplasmic Lewy-body-like inclusions
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• cortical neurons show cytoplasmic and intranuclear aggregates of human synuclien protein
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• axonal degeneration in the cortical gray matter and subcortical white matter and in the cerebral peduncle
• axonal and punctate degeneration in the red nucleus and intermingling superior cerebellar peduncle
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• apoptosis of nigral neurons and cortical neruons
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Parkinson's disease 1 | DOID:0060367 |
OMIM:168601 |
J:212732 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice show onset of motoneuron disease at ~5-6 months
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 10/29/2024 MGI 6.24 |
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