Phenotypes Associated with This Genotype

Genotype
MGI:2174709

• Allelic Composition: Prnp^tm1Cwe/Prnp^tm1Cwe
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

behavior/neurological

behavior/neurological phenotype ( J:472 , J:67593 )

N • normal behavior (J:472)

N • no ataxia or Purkinje cell loss observed (J:67593)

nervous system

decreased brain copper level ( J:126728 )

• after 12 months, copper levels in the brain fail to increase with age unlike in wild-type mice

• copper levels in the synaptosomes are decreased compared to in wild-type mice

abnormal CNS synaptic transmission ( J:19448 )

• GABA(A) receptor-mediated fast inhibition is weaker in hippocampal slices of mutants than in wild-type mice, indicating impaired synaptic inhibition

abnormal inhibitory postsynaptic currents ( J:19448 )

• inhibitory postsynaptic currents (ipscs) have significantly slower rising phases and are slower

abnormal inhibitory postsynaptic potential ( J:19448 )

• fast inhibitory postsynaptic potentials (ipsps) appear weaker in hippocampal slices than in wild-type, however excitatory postsynaptic potentials are normal

reduced long-term potentiation ( J:19448 )

• long term potentiation in CA1 of hippocampal slices is weaker in both the absence and presence of bicuculline

homeostasis/metabolism

decreased brain copper level ( J:126728 )

• after 12 months, copper levels in the brain fail to increase with age unlike in wild-type mice

• copper levels in the synaptosomes are decreased compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Creutzfeldt-Jakob disease	DOID:11949	OMIM:123400	J:472
NOT	Gerstmann-Straussler-Scheinker syndrome	DOID:4249	OMIM:137440	J:472