Phenotypes Associated with This Genotype

Genotype
MGI:5525127

• Allelic Composition: Tg(Prnp-MAPT*P301L)#Ruvi/Tg(Prnp-MAPT*P301L)#Ruvi
• Genetic Background: involves: C3HeB/FeJ * C57BL/6

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

growth/size/body

weight loss ( J:197198 )

• weight loss by 6 months of age

mortality/aging

premature death ( J:197198 )

• reduction in survival rate beginning around 9 months of age

behavior/neurological

abnormal grooming behavior ( J:197198 )

• abnormal grooming behavior starting around 9 months of age as evident by dull rough coats

limb grasping ( J:197198 )

• at 12 months of age, 100% of mutants exhibit cupping of the hind paws and bilaterally pulling of the hind paws toward the abdomen when suspended by the tail compared to 33% of wild-type mice

dystonia ( J:197198 )

• at 10-14 months of age, mutants show a decline in health including hind-limb dystonia

hunched posture ( J:197198 )

• at 10-14 months of age, mutants show a decline in health, with deterioration of coat condition, hunched back, weight loss, and hind-limb dystonia

muscle

dystonia ( J:197198 )

• at 10-14 months of age, mutants show a decline in health including hind-limb dystonia

nervous system

tau protein deposits ( J:197198 )

• tau deposits are predominately seen in the hippocampus, piriform cortex, brain stem, spinal cord, and the cerebellum

abnormal synapse morphology ( J:197198 )

• with age, synaptophysin levels decrease indicating synaptic degeneration

neurodegeneration ( J:197198 )

• neuronal loss in the temporal lobe, amygdala, and hippocampal pyramidal layer