MGI phenotypes (allele matching)
- neonatal lethality, complete penetrance / MGI
B6.129P2-Grin1tm1Slab/H
| Status | Available to order |
| EMMA ID | EM:06319 |
| International strain name | B6.129P2-Grin1tm1Slab/H |
| Alternative name | GluN1Rneo |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Grin1tm1Slab, |
| Gene/Transgene symbol | Grin1 |
Information from provider
| Provider | Ralf Schoepfer |
| Provider affiliation | NPP Pharmacology, UCL |
| Genetic information | Grin1 gene coding for NMDA receptor GLUN1 subunit (also known as NR1) carrying targeted point mutation Q598R. In addition lox-ed neo cassette is present in intron 18. The neo-containing allele is expressed as a Grin1Q598R hypomorph. |
| Phenotypic information | Heterozygous animals have subregion-specific impairment of hippocampal plasticity, associated with impaired spatial memory and navigation. Homozygous animals (neo/neo) die shortly after birth. Heterozygous animals with heterozygous global Cre-mediated removal of the neo cassette (Grin1tm1.1Slab) die shortly after birth. Therefore the Grin1tm1.1Slab allele can not be maintained. |
| Breeding history | Backcrossed for > 20 generations into C57BL/6J |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| 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
- Autosomal dominant non-syndromic intellectual disability / Orphanet_178469
- Bilateral generalized polymicrogyria / Orphanet_208447
- Early infantile epileptic encephalopathy / Orphanet_1934
Literature references
- Absence of Whisker-related pattern formation in mice with NMDA receptors lacking coincidence detection properties and calcium signaling.;Rudhard York, Kneussel Matthias, Nassar Mohammed A, Rast Georg F, Annala Alexander J, Chen Philip E, Tigaret Cezar M, Dean Isabel, Roes Juergen, Gibb Alasdair J, Hunt Stephen P, Schoepfer Ralf, ;2003;The Journal of neuroscience : the official journal of the Society for Neuroscience;23;2323-32; 12657691
- Behavioral deficits and subregion-specific suppression of LTP in mice expressing a population of mutant NMDA receptors throughout the hippocampus.;Chen Philip E, Errington Michael L, Kneussel Matthias, Chen Guiquan, Annala Alexander J, Rudhard York H, Rast Georg F, Specht Christian G, Tigaret Cezar M, Nassar Mohammed A, Morris Richard G M, Bliss Timothy V P, Schoepfer Ralf, ;2009;Learning & memory (Cold Spring Harbor, N.Y.);16;635-44; 19794189