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Phenotypes Associated with This Genotype
Genotype
MGI:3764817
Allelic
Composition
Tg(CAG-SNCA*)1.1Ccs/?
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(CAG-SNCA*)1.1Ccs mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• mice exhibit normal susbstantia nigra compacta (J:127708)
• mice exhibit normal brain and spinal cord morphology, and normal dopaminergic neurons and axons, cell death or micro- and astrogliosis in the substantial nigra, striatum, locus coeruleus and cerebral cortex (J:127707)
• in old-aged mice, neurons display cytoplasmic vacuoles and disruptions in the Golgi network and endoplasmic reticulum
• almost all mesencephalic glial cell types exhibit a higher number of structurally altered mitochondria
• mitochondrial alterations are higher in oligodendrocytes than in astrocytes or microglia
• mesencephalic glial cells exhibit a higher percentage of damaged mitochondria than in mesencephalic neurons at 3 and 12-15 months of age
• in aged mice, neurons display cytoplasmic vacuoles, disruptions in the Golgi network and endoplasmic reticulum, occasionally detached outer nuclear membrane, and mitochondria abnormalities including electron dense inclusion bodies, dilated and disorganized cristae and protrusions
• astrocytes exhibit reduced mitochondrial calcium storage capacity

cellular
• the number of damaged mitochondria is increased in the substantia nigra and up to 900% in the frontal cortex compared to in wild-type mice (J:127707)
• however, the number of mitochondria in affected brains is normal and no mitochondrial swelling is observed (J:127707)
• almost all mesencephalic glial cell types exhibit a higher number of structurally altered mitochondria, showing disintegration and reduction of mitochondrial cristae, mitochondrial enlargement and formation of protrusions or disruption of the outer membrane (J:168847)
• astrocytes exhibit reduced mitochondrial calcium storage capacity

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Parkinson's disease DOID:14330 OMIM:PS168600
J:168847


Contributing Projects:
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
11/12/2024
MGI 6.24
The Jackson Laboratory