Phenotypes Associated with This Genotype

Genotype
MGI:5546408

• Allelic Composition: Prnp^tm3Lnq/Prnp^tm3Lnq
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6N

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

Neuropathologic processes of Prnp^tm3Lnq/Prnp^tm3Lnq mice

mortality/aging

premature death ( J:200974 )

• some mice become terminally ill by 14 months of age

behavior/neurological

impaired coordination ( J:200974 )

• performance on a rotarod improves in repeated trials but lags far behind controls

abnormal voluntary movement ( J:200974 )

• only half as efficient in the ability to remove a burrowing matrix from a tube

• in an automated mouse behavioral analysis assay, "turn" (a measure of body twisting behavior) and "cuddled hang" (time spent hanging from the ceiling) are strongly reduced

decreased locomotor activity ( J:200974 )

• in an automated mouse behavioral analysis assay, might generally spend less time doing physically demanding behaviors and more time in resting-related behaviors

nervous system

increased neuron apoptosis ( J:200974 )

• signs of programmed cell death are seen in the thalamus

abnormal neuron proliferation ( J:200974 )

• markers of proliferating neurons are detected in the superior colliculus

abnormal hippocampus morphology ( J:200974 )

• numerous proteinase K-resistant prion protein aggregates are present

abnormal hippocampus CA1 region morphology ( J:200974 )

• prominent spongiform degeneration in the CA1 region of the hippocampus, specifically in the synapse-rich area of the molecular layer

abnormal olfactory bulb morphology ( J:200974 )

• small patches of proteinase K-resistant prion protein aggregates are present

abnormal cerebellar molecular layer ( J:200974 )

• numerous proteinase K-resistant prion protein aggregates are present

astrocytosis ( J:200974 )

• reactive gliosis in the hippocampi and deep cerebellar white matter but not in the thalamus

neuron degeneration ( J:200974 )

• abnormally large H2A.X positive puncta are present in striatal neurons

spongiform encephalopathy ( J:200974 )

• prominent spongiform degeneration in the CA1 region of the hippocampus, specifically in the synapse-rich area of the molecular layer

• the disease is transmissible to other strains of mice following exposure to brain homogenates from ill mice

vision/eye

abnormal retina morphology ( J:200974 )

• proteinase K-resistant prion protein aggregates are present in a synapse-rich region of the retina

cellular

increased neuron apoptosis ( J:200974 )

• signs of programmed cell death are seen in the thalamus

abnormal neuron proliferation ( J:200974 )

• markers of proliferating neurons are detected in the superior colliculus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Creutzfeldt-Jakob disease		DOID:11949	OMIM:123400	J:200974