Stock

FESA Number

59

Strain Name

129P2/OlaHsdH-Prnp<tm2Edin>/H

Mutation Strain Type

Mutation Type Mutation Subtype Strain Type
IMSR - Targeted mutation IMSR - mutant strain

Attribution

Institution name Depositor / Originator Name
Institute for Animal Health Originator Retained
Institute for Animal Health Depositor Retained

Gene/Allele Information

Allele Name Allele MGI ID Gene Name Gene MGI ID Chromosome
Prnp<tm2Edin> MGI:2387688 Prnp MGI:97769 2

Phenotypic Description

No expression of the Prnp gene. Abnormalities in synaptic transmission, circadian rhythm and sleep. Increased susceptability to oxidative stress and copper toxicity. Cellular phenotypes in T cell activation.

Orphanet Disorders

OrphaNet ID Name Url
356 Gerstmann-Straussler-Scheinker syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=356
466 Fatal familial insomnia http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=466
157 941 Huntington disease-like 1 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=157941
280 397 Familial Alzheimer-like prion disease http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280397
282 166 Inherited Creutzfeldt-Jakob disease http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=282166

Publications

Displaying 1 - 10 of 46 Stock Publications
Pubmed ID Authors Title Journal
24352451 Aguilar-Calvo P Role of the goat K222-PrP(C) polymorphic variant in prion infection resistance. J Virol (2 014) 88:2670-6
21795680 Griffiths HH Prion protein interacts with BACE1 protein and differentially regulates its activity toward wild type and Swedish mutant amyloid precursor protein. J Biol Chem (2 011) 286:33489-500
11179214 Rossi D Onset of ataxia and Purkinje cell loss in PrP null mice inversely correlated with Dpl level in brain. EMBO J (2 001) 20:694-702
19243016 Arantes C Prion protein and its ligand stress inducible protein 1 regulate astrocyte development. Glia (2 009) 57:1439-49
17504807 Hajj GN Cellular prion protein interaction with vitronectin supports axonal growth and is compensated by integrins. J Cell Sci (2 007) 120:1915-26
18797300 Sanchez-Alavez M Hypothalamic-pituitary-adrenal axis disregulation in PrPC-null mice. Neuroreport (2 008) 19:1473-7
20098419 Bremer J Axonal prion protein is required for peripheral myelin maintenance. Nat Neurosci (2 010) 13:310-8
11924867 Huber R Sleep deprivation in prion protein deficient mice sleep deprivation in prion protein deficient mice and control mice: genotype dependent regional rebound. Neuroreport (2 002) 13:1-4
16492732 Steele AD Prion protein (PrPc) positively regulates neural precursor proliferation during developmental and adult mammalian neurogenesis. Proc Natl Acad Sci U S A (2 006) 103:3416-21
11782965 Brown DR Lack of prion protein expression results in a neuronal phenotype sensitive to stress. J Neurosci Res (2 002) 67:211-24

Pages

Orphanet Categories

Rare neurologic disease

EMMA ID

EM:01719

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