IMPC phenotypes (gene matching)
B6.129-Grin2btm1Rsp/Kctt
| Status | Available to order |
| EMMA ID | EM:09316 |
| Citation information | RRID:IMSR_EM:09316 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-Grin2btm1Rsp/Kctt |
| Alternative name | Grin2BCdc+ (Lab name NR2BDC) |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Grin2btm1Rsp |
| Gene/Transgene symbol | Grin2b |
Information from provider
| Provider | Rolf Sprengel |
| Provider affiliation | Molecular Neurobiology, Max Planck Institute for Medical Research |
| Genetic information | The targeted alleles of the Grin2b gene encode a C-terminal truncated NMDA receptor subunit GluN2B. The NMDA receptors channel is not affected. |
| Phenotypic information | Homozygous:LethalHeterozygous:not analysed |
| Breeding history | Heterozygous Grin2b dc/+ offspring from chimeric founder animals were backcrossed at least 5 times to C57BL/6 mice. |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Karolinska Institutet, Stockholm, Sweden |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- West syndrome / Orphanet_3451
- Autosomal dominant non-syndromic intellectual disability / Orphanet_178469
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder / Orphanet_589547
MGI phenotypes (gene matching)
- disorganized barrel cortex / MGI
- decreased body size / MGI
- abnormal social investigation / MGI
- social withdrawal / MGI
- decreased anxiety-related response / MGI
- hyperactivity / MGI
- impaired coordination / MGI
- absent suckling reflex / MGI
- abnormal suckling behavior / MGI
- abnormal cued conditioning behavior / MGI
- abnormal temporal memory / MGI
- reduced long term potentiation / MGI
- increased startle reflex / MGI
- abnormal long term depression / MGI
- absent long term depression / MGI
- impaired synaptic plasticity / MGI
- absence of NMDA-mediated synaptic currents / MGI
- perinatal lethality / MGI
- abnormal CNS synaptic transmission / MGI
- abnormal social/conspecific interaction / MGI
- abnormal operant conditioning behavior / MGI
- abnormal AMPA-mediated synaptic currents / MGI
- abnormal NMDA-mediated synaptic currents / MGI
- abnormal excitatory postsynaptic potential / MGI
- enhanced long term potentiation / MGI
- nervous system phenotype / MGI
- abnormal nervous system physiology / MGI
- abnormal miniature excitatory postsynaptic currents / MGI
- behavior/neurological phenotype / MGI
- increased prepulse inhibition / MGI
- absent gastric milk in neonates / MGI
- postnatal lethality, complete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
Literature references
- Importance of the intracellular domain of NR2 subunits for NMDA receptor function in vivo.;Sprengel R, Suchanek B, Amico C, Brusa R, Burnashev N, Rozov A, Hvalby O, Jensen V, Paulsen O, Andersen P, Kim J J, Thompson R F, Sun W, Webster L C, Grant S G, Eilers J, Konnerth A, Li J, McNamara J O, Seeburg P H, ;1998;Cell;92;279-89; 9458051