Phenotypes Associated with This Genotype

Genotype
MGI:4415607

• Allelic Composition: Tg(Prnp-ITM2B*)1Ruvi/?
• Genetic Background: B6.C3Fe-Tg(Prnp-ITM2B*)1Ruvi

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

nervous system

nervous system phenotype ( J:155720 )

N • despite amyloid deposits, no hemorrhages or neurofibrillary tangles are detected

abnormal brain vasculature morphology ( J:155720 )

• vessels show thickened, eosinophilic walls and loss of smooth muscle cells

amyloid beta deposits ( J:155411 , J:155720 )

• throughout the cerebellum (J:155411)

• both intra- and extra-cellularly throughout the cerebrum cell bodies and dendrites of Purkinje cells (J:155720)

cerebral amyloid angiopathy ( J:155720 )

• by 7 months of age consistently seen in pial (leptomeningeal) cerebellar vessels

• by 8-9 months, seen in large and medium-sized parenchymal and penetrating vessels of the cerebrum (neocortex, hippocampus, thalamus and olfactory bulb), the brain stem and the spinal cord

• seen in the walls of large and medium size vessels and in the wall of vessels of the hippocampal fissure

• deposits in the hippocampus are most prominent in the CA3 and CA2 regions and the hilus deposits increase with age

abnormal cerebellar Purkinje cell layer ( J:155720 )

• occasional loss of Purkinje cells in the cerebellum

tau protein deposits ( J:155720 )

• throughout the neuropil of the cerebral cortex and hippocampus

gliosis ( J:155720 )

• severe gliosis

behavior/neurological

abnormal grooming behavior ( J:155720 )

• at 1 year of age

limb grasping ( J:155720 )

• flex their front and hind limbs inward, with paws clasped together and drawn in toward the body

abnormal posture ( J:155720 )

• aged mice (1 year) have an arched back

abnormal gait ( J:155720 )

• aged mice (1 year) walk with a wide-based gait

short stride length ( J:155720 )

• at 1 year of age

cardiovascular system

abnormal brain vasculature morphology ( J:155720 )

• vessels show thickened, eosinophilic walls and loss of smooth muscle cells

homeostasis/metabolism

amyloid beta deposits ( J:155411 , J:155720 )

• throughout the cerebellum (J:155411)

• both intra- and extra-cellularly throughout the cerebrum cell bodies and dendrites of Purkinje cells (J:155720)

cerebral amyloid angiopathy ( J:155720 )

• by 7 months of age consistently seen in pial (leptomeningeal) cerebellar vessels

• by 8-9 months, seen in large and medium-sized parenchymal and penetrating vessels of the cerebrum (neocortex, hippocampus, thalamus and olfactory bulb), the brain stem and the spinal cord

• seen in the walls of large and medium size vessels and in the wall of vessels of the hippocampal fissure

• deposits in the hippocampus are most prominent in the CA3 and CA2 regions and the hilus deposits increase with age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cerebral amyloid angiopathy		DOID:9246		J:155720