IMPC phenotypes (gene matching)
B6.129P2-Grin1tm2Slab/H
| Status | Available to order |
| EMMA ID | EM:06320 |
| International strain name | B6.129P2-Grin1tm2Slab/H |
| Alternative name | GluN1 promoter replacement |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Grin1tm2Slab |
| 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 knock-in into promoter region. Knock-in of both tTA transcription factor, and tTA-dependent tot-O7 promoter (TRE) |
| Phenotypic information | The allele behaves as a Grin1 null allele. Homozygous animals die shortly after birth. Grin1 expression may potentially be induced by tTA or rtTA. Knocked-in tTA DNA segment apparently inactive. |
| Breeding history | Backcrossed for > 15 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
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
- 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