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Phenotypes Associated with This Genotype
Genotype
MGI:5688743
Allelic
Composition
Scarb2tm1Psa/Scarb2tm1Psa
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scarb2tm1Psa mutation (0 available); any Scarb2 mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice show severe neurological impairments from 4 months of age
• hind-limb clasping from 4 months of age
• tremor from 4 months of age
• mice show progression to partial paralysis

growth/size/body
• reduction in body weight at 10 months of age

hematopoietic system
• progressive increase in microgliosis in the pons and midbrain

homeostasis/metabolism
• beta-glucocerebrosidase activity is reduced in the pons and midbrain
• beta-hexosaminidase and alpha-mannosidase activities are increased in the brain

immune system
• progressive increase in microgliosis in the pons and midbrain

mortality/aging
• do not survive beyond 10 months of age

nervous system
• accumulation of alpha-synuclein in the pons and midbrain, including the substantia nigra
• progressive increase in microgliosis in the pons and midbrain
• progressive increase in astrogliosis in the pons and midbrain
• accumulation of storage material within the neurons of the pons; presence of electron-dense material, lipid droplets, and lamellated bodies
• progressive storage of carbohydrate conjugates, particularly in the pons, including intracellular accumulation of the beta-glucocerebrosidase substrate, GluCer, and accumulation of vesicular alpha-synuclein in the soma and proximal neurites of neurons
• tyrosine-hydroxylase (TH)-positive neurons within the substantia nigra are shrunken in size
• progressive apoptotic cell death in the pons and midbrain
• neurodegeneration of dopaminergic neurons


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
11/06/2018
MGI 6.13
The Jackson Laboratory