Phenotypes Associated with This Genotype

Genotype
MGI:5688743

• Allelic Composition: Scarb2^tm1Psa/Scarb2^tm1Psa
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

abnormal behavior ( J:216676 )

• mice show severe neurological impairments from 4 months of age

limb grasping ( J:216676 )

• hind-limb clasping from 4 months of age

tremors ( J:216676 )

• tremor from 4 months of age

paralysis ( J:216676 )

• mice show progression to partial paralysis

growth/size/body

decreased body weight ( J:216676 )

• reduction in body weight at 10 months of age

hematopoietic system

microgliosis ( J:216676 )

• progressive increase in microgliosis in the pons and midbrain

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:216676 )

• beta-glucocerebrosidase activity is reduced in the pons and midbrain

• beta-hexosaminidase and alpha-mannosidase activities are increased in the brain

immune system

microgliosis ( J:216676 )

• progressive increase in microgliosis in the pons and midbrain

mortality/aging

premature death ( J:216676 )

• do not survive beyond 10 months of age

nervous system

abnormal nervous system morphology ( J:216676 )

• accumulation of alpha-synuclein in the pons and midbrain, including the substantia nigra

microgliosis ( J:216676 )

• progressive increase in microgliosis in the pons and midbrain

astrocytosis ( J:216676 )

• progressive increase in astrogliosis in the pons and midbrain

abnormal neuron morphology ( J:216676 )

• 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

neurodegeneration ( J:216676 )

• 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
progressive myoclonus epilepsy		DOID:891	OMIM:310370 OMIM:PS254800	J:216676