IMPC phenotypes (gene matching)
B6.129-Grin1tm2Phs/Kctt
| Status | Available to order |
| EMMA ID | EM:09287 |
| Citation information | RRID:IMSR_EM:09287 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 | B6.129-Grin1tm2Phs/Kctt |
| Alternative name | Grin1Rneo/+ (Lab name B6.NR1M2Rneo) |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Grin1tm2Phs |
| Gene/Transgene symbol | Grin1 |
Information from provider
| Provider | Rolf Sprengel |
| Provider affiliation | Molecular Neurobiology, Max Planck Institute for Medical Research |
| Genetic information | Cre inducible activation of the silenced single amino acid mutation of the mutation N-methy-D-aspartate-receptor gene (NMDAR). |
| Phenotypic information | Homozygous:LethalHeterozygous:No obvious phenotype |
| Breeding history | Embryos from matings of heterozygote Grin1Rneo/+ and C57BL/6N females were harvested and 30 embryos were cryoconserved in 2011. |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Karolinska Institutet, Stockholm, Sweden |
| Animals used for archiving | heterozygous C57BL/6N males, wild-type C57BL/6N females |
| Stage of embryos | 2-cell |
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
MGI phenotypes (gene matching)
- abnormal trigeminal nerve morphology / MGI
- atelectasis / MGI
- lung hemorrhage / MGI
- overexpanded pulmonary alveoli / MGI
- decreased body weight / MGI
- abnormal social investigation / MGI
- social withdrawal / MGI
- abnormal anxiety-related response / MGI
- reduced male mating frequency / MGI
- abnormal pup retrieval / MGI
- pup cannibalization / MGI
- abnormal maternal nurturing / MGI
- abnormal locomotor behavior / MGI
- ataxia / MGI
- hyperactivity / MGI
- hypoactivity / MGI
- impaired coordination / MGI
- stereotypic behavior / MGI
- increased exploration in new environment / MGI
- absent suckling reflex / MGI
- abnormal suckling behavior / MGI
- aphagia / MGI
- abnormal nest building behavior / MGI
- abnormal huddling behavior / MGI
- abnormal spatial learning / MGI
- reduced long term potentiation / MGI
- increased startle reflex / MGI
- impaired righting response / MGI
- cyanosis / MGI
- postnatal growth retardation / MGI
- absence of NMDA-mediated synaptic currents / MGI
- reduced male fertility / MGI
- abnormal respiration / MGI
- abnormal breathing pattern / MGI
- respiratory distress / MGI
- apnea / MGI
- abnormal motor capabilities/coordination/movement / MGI
- premature death / MGI
- no abnormal phenotype detected / MGI
- abnormal nervous system electrophysiology / MGI
- abnormal social/conspecific interaction / MGI
- decreased vertical activity / MGI
- abnormal conditioned taste aversion behavior / MGI
- abnormal glutamate-mediated receptor currents / MGI
- decreased susceptibility to pharmacologically induced seizures / MGI
- abnormal NMDA-mediated synaptic currents / MGI
- no phenotypic analysis / MGI
- thrombocytopenia / MGI
- increased alcohol consumption / MGI
- decreased alcohol consumption / MGI
- nervous system phenotype / MGI
- abnormal nervous system physiology / MGI
- decreased aggression towards mice / MGI
- impaired passive avoidance behavior / MGI
- abnormal miniature excitatory postsynaptic currents / MGI
- abnormal neuron physiology / MGI
- abnormal brainstem morphology / MGI
- cardiovascular system phenotype / MGI
- behavior/neurological phenotype / MGI
- taste/olfaction phenotype / MGI
- abnormal food intake / MGI
- abnormal pulmonary respiratory rate / MGI
- decreased susceptibility to neuronal excitotoxicity / MGI
- abnormal physiological response to xenobiotic / MGI
- decreased prepulse inhibition / MGI
- abnormal maternal grooming / MGI
- absent gastric milk in neonates / MGI
- abnormal behavioral response to xenobiotic / MGI
- reduced AMPA-mediated synaptic currents / MGI
- postnatal lethality, complete penetrance / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- perinatal lethality, complete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
- abnormal behavioral response to alcohol / MGI
Literature references
- Dysfunctions in mice by NMDA receptor point mutations NR1(N598Q) and NR1(N598R).;Single F N, Rozov A, Burnashev N, Zimmermann F, Hanley D F, Forrest D, Curran T, Jensen V, Hvalby O, Sprengel R, Seeburg P H, ;2000;The Journal of neuroscience : the official journal of the Society for Neuroscience;20;2558-66; 10729336
- Gene Targeted Mice with Conditional Knock-In (-Out) of NMDAR Mutations.;Sprengel Rolf, Eltokhi Ahmed, Single Frank N, ;2017;Methods in molecular biology (Clifton, N.J.);1677;201-230; 28986875