Phenotypes Associated with This Genotype

Genotype
MGI:3836992

• Allelic Composition: Tg(Prnp*D177N*M128V)A21Rchi/Tg(Prnp*D177N*M128V)A21Rchi
• Genetic Background: involves: C57BL/6 * CBA

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

mortality/aging

premature death ( J:142098 )

• mice die from neurological disease with a mean lifespan of 284 days

• the length of illness (mean day of onset until death) is 130 days

behavior/neurological

limb grasping ( J:142098 )

• mice suffering form neurological disease tightly clasp hindlimbs upon lifting by tail

ataxia ( J:142098 )

• mice develop ataxia with extension of hindlimbs and unbalanced posture with an age of onset at 144 days

impaired balance ( J:142098 )

• mice develop ataxia with extension of hindlimbs and unbalanced posture with an age of onset at 144 days

nervous system

abnormal brain morphology ( J:142098 )

• protease resistant Prnp deposits are found in many parts of the brain in mice suffering from neurological disease

• Prnp deposits ranged from diffuse synaptic-type depositions prominent in the hippocampus to plaque-like depositions in the reticular thalamic nucleus, the corpus callosum, the external and internal capsule, the cingulated cortex, and the anterior commissure nuclei

• depositions do not contain amyloid fibrils

astrocytosis ( J:142098 )

• hypertrophy and proliferation of astrocytes are prominent adjacent to Prnp depositions

skeleton

kyphosis ( J:142098 )

• kyphosis occurs with the onset of ataxia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Creutzfeldt-Jakob disease		DOID:11949	OMIM:123400	J:142098