MGI phenotypes (allele matching)
- altered susceptibility to prion infection / MGI
129P2/OlaHsd-Prnptm1Edin/EdinH
| Status | Available to order |
| EMMA ID | EM:11450 |
| Citation information | RRID:IMSR_EM:11450 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | 129P2/OlaHsd-Prnptm1Edin/EdinH |
| Alternative name | 101LL |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Prnptm1Edin |
| Gene/Transgene symbol | Prnp |
Information from provider
| Provider | Jean Manson |
| Provider affiliation | The Roslin Institute |
| Genetic information | Gene targeted mice with a single amino acid alteration (proline to leucine) at amino acid position 101 in their Prnp protein (P101L). |
| Phenotypic information | Homozygous:Mice appear to develop normally with no overt phenotype.Heterozygous:Mice appear to develop normally with no overt phenotype |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | yes |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
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 (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
- Double replacement gene targeting for the production of a series of mouse strains with different prion protein gene alterations.;Moore R C, Redhead N J, Selfridge J, Hope J, Manson J C, Melton D W, ;1995;Bio/technology (Nature Publishing Company);13;999-1004; 9636277
- Changing a single amino acid in the N-terminus of murine PrP alters TSE incubation time across three species barriers.;Barron R M, Thomson V, Jamieson E, Melton D W, Ironside J, Will R, Manson J C, ;2001;The EMBO journal;20;5070-8; 11566872
- A single amino acid alteration (101L) introduced into murine PrP dramatically alters incubation time of transmissible spongiform encephalopathy.;Manson J C, Jamieson E, Baybutt H, Tuzi N L, Barron R, McConnell I, Somerville R, Ironside J, Will R, Sy M S, Melton D W, Hope J, Bostock C, ;1999;The EMBO journal;18;6855-64; 10581259