- reduced long term potentiation / MGI
- abnormal CNS synaptic transmission / MGI
- abnormal inhibitory postsynaptic potential / MGI
- abnormal inhibitory postsynaptic currents / MGI
- behavior/neurological phenotype / MGI
- decreased brain copper level / MGI
- tremors / MGI
- abnormal cerebellum morphology / MGI
- decreased Purkinje cell number / MGI
B6.Cg-Prnptm1Cwe Tg(Prnp*D177N*M128V)66Rchi/Cnrm
Status | Available to order |
EMMA ID | EM:12879 |
International strain name | B6.Cg-Prnptm1Cwe Tg(Prnp*D177N*M128V)66Rchi/Cnrm |
Alternative name | Tg(CJD-66+/-)/Prnp0/0 |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Prnptm1Cwe, Tg(Prnp*D177N*M128V)66Rchi |
Gene/Transgene symbol | Prnp, Tg(Prnp*D177N*M128V)66Rchi |
Information from provider
Provider | Roberto Chiesa |
Provider affiliation | Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS |
Genetic information | Transgenic mice expressing mouse prion protein (moPrP) carrying the D177N/V128 mutation that in humans is linked to a genetic form of Creutzfeldt-Jakob disease (CJD178), under the control of the mouse Prnp (PrP) gene promoter. |
Phenotypic information | Homozygous:Unknown.Heterozygous:Neurological disease with cognitive and motor dysfunction, and sleep abnormalities. Neurological signs, including kyphosis, foot clasp reflex, become overt at approximately 200 days and mice reach a terminal stage at approximately 400 days (Bouybayoune et al., PLoS Pathog 11(4): e1004796, 2015; Chiesa et al., Prion 10(2):93-102, 2016). |
Breeding history | The Tg(CJD-66+/-)/Prnp+/+ founder (C57BL/6 x CBA) was backcrossed with C57BL/6J-backcrossed Prnp0/0 mice (EMMA strain EM:01723). |
References |
|
Homozygous fertile | not known |
Homozygous viable | not known |
Homozygous matings required | no |
Immunocompromised | not known |
Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Inherited Creutzfeldt-Jakob disease / Orphanet_282166
- Familial Alzheimer-like prion disease / Orphanet_280397
- Huntington disease-like 1 / Orphanet_157941
- PrP systemic amyloidosis / Orphanet_397606
- Fatal familial insomnia / Orphanet_466
- Gerstmann-Straussler-Scheinker syndrome / Orphanet_356
- Sporadic fatal insomnia / Orphanet_586130
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- impaired fertilization / MGI
- abnormal spleen morphology / MGI
- tremors / MGI
- abnormal cerebral cortex morphology / MGI
- abnormal hippocampus morphology / MGI
- abnormal olfactory bulb morphology / MGI
- abnormal thalamus morphology / MGI
- abnormal cerebellum morphology / MGI
- Purkinje cell degeneration / MGI
- decreased Purkinje cell number / MGI
- abnormal cerebellar molecular layer / MGI
- thin cerebellar molecular layer / MGI
- abnormal retina morphology / MGI
- ataxia / MGI
- hypoactivity / MGI
- impaired coordination / MGI
- reduced long term potentiation / MGI
- abnormal sleep pattern / MGI
- abnormal body temperature homeostasis / MGI
- male infertility / MGI
- premature death / MGI
- abnormal muscle physiology / MGI
- abnormal brain morphology / MGI
- no abnormal phenotype detected / MGI
- gliosis / MGI
- abnormal CNS synaptic transmission / MGI
- neurodegeneration / MGI
- spongiform encephalopathy / MGI
- decreased vertical activity / MGI
- abnormal inhibitory postsynaptic potential / MGI
- abnormal inhibitory postsynaptic currents / MGI
- no phenotypic analysis / MGI
- increased neuron apoptosis / MGI
- neuron degeneration / MGI
- astrocytosis / MGI
- abnormal voluntary movement / MGI
- nervous system phenotype / MGI
- abnormal nervous system morphology / MGI
- impaired acrosome reaction / MGI
- abnormal behavior / MGI
- abnormal neuronal precursor proliferation / MGI
- decreased susceptibility to prion infection / MGI
- increased susceptibility to prion infection / MGI
- behavior/neurological phenotype / MGI
- immune system phenotype / MGI
- teratozoospermia / MGI
- brain vacuoles / MGI
- abnormal brain white matter morphology / MGI
- abnormal hippocampus CA1 region morphology / MGI
- decreased neuron number / MGI
- abnormal neuron differentiation / MGI
- abnormal neuron proliferation / MGI
- decreased brain copper level / MGI
- enlarged brain ventricles / MGI
- cerebellum atrophy / MGI
- altered susceptibility to prion infection / MGI
Literature references
- Mutant prion protein expression causes motor and memory deficits and abnormal sleep patterns in a transgenic mouse model.;Dossena Sara, Imeri Luca, Mangieri Michela, Garofoli Anna, Ferrari Loris, Senatore Assunta, Restelli Elena, Balducci Claudia, Fiordaliso Fabio, Salio Monica, Bianchi Susanna, Fioriti Luana, Morbin Michela, Pincherle Alessandro, Marcon Gabriella, Villani Flavio, Carli Mirjana, Tagliavini Fabrizio, Forloni Gianluigi, Chiesa Roberto, ;2008;Neuron;60;598-609; 19038218
- Transgenic fatal familial insomnia mice indicate prion infectivity-independent mechanisms of pathogenesis and phenotypic expression of disease.;Bouybayoune Ihssane, Mantovani Susanna, Del Gallo Federico, Bertani Ilaria, Restelli Elena, Comerio Liliana, Tapella Laura, Baracchi Francesca, Fernández-Borges Natalia, Mangieri Michela, Bisighini Cinzia, Beznoussenko Galina V, Paladini Alessandra, Balducci Claudia, Micotti Edoardo, Forloni Gianluigi, Castilla Joaquín, Fiordaliso Fabio, Tagliavini Fabrizio, Imeri Luca, Chiesa Roberto, ;2015;PLoS pathogens;11;e1004796; 25880443
- Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity.;Chiesa Roberto, Restelli Elena, Comerio Liliana, Del Gallo Federico, Imeri Luca, ;2016;Prion;10;93-102; 26864450
Information on how we integrate external resources can be found here
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).