Gene Summary

Name:
glutamate receptor, ionotropic, NMDA2D (epsilon 4)
Synonyms:
NMDAR2D,  GluRepsilon4,  GluN2D,  NR2D

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lean body mass Grin2dtm1a(EUCOMM)Wtsi HOM Early adult 8.02×10-13
decreased bone mineral density Grin2dtm1a(EUCOMM)Wtsi HOM Early adult 2.70×10-05
decreased circulating triglyceride level Grin2dtm1a(EUCOMM)Wtsi HOM Early adult 7.32×10-08
increased bone mineral content Grin2dtm1a(EUCOMM)Wtsi HOM Early adult 2.36×10-12
increased total body fat amount Grin2dtm1a(EUCOMM)Wtsi HOM Early adult 7.37×10-07
decreased heart weight Grin2dtm1a(EUCOMM)Wtsi HOM Early adult 8.45×10-11
abnormal bone structure Grin2dtm1a(EUCOMM)Wtsi HOM Early adult 1.61×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Grin2d mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Grin2d by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental And Epileptic Encephalopathy 46
Tremor OMIM:617162
Non-Specific Early-Onset Epileptic Encephalopathy
Difficulty walking, Unsteady gait, Ataxia ORPHA:442835

The table below shows human diseases predicted to be associated to Grin2d by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis ORPHA:228169
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Tay-Sachs Disease
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia ORPHA:845
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Sandhoff Disease
Exaggerated startle response OMIM:268800
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Exaggerated startle response OMIM:620423
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Developmental And Epileptic Encephalopathy 46
Tremor OMIM:617162
Non-Specific Early-Onset Epileptic Encephalopathy
Difficulty walking, Unsteady gait, Ataxia ORPHA:442835

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Grin2d

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Grin2d.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
GluN2D subunit-containing NMDA receptors regulate reticular thalamic neuron function and seizure susceptibility. Neurobiology of disease (April 2023) Grin2dtm1c(EUCOMM)Wtsi Grin2dtm1a(EUCOMM)Wtsi 37031803
GluN2D Subunit in Parvalbumin Interneurons Regulates Prefrontal Cortex Feedforward Inhibitory Circuit and Molecular Networks Relevant to Schizophrenia. Biological psychiatry (March 2023) Grin2dtm1c(EUCOMM)Wtsi 37004850
GluN2D expression is regulated by restraint stress and supports active stress coping bouts. Neuropharmacology (December 2022) Grin2dtm1c(EUCOMM)Wtsi 36528117
Cocaine preference and neuroadaptations are maintained by astrocytic NMDA receptors in the nucleus accumbens. Science advances (July 2022) Grin2dtm1a(EUCOMM)Wtsi PMC9307248
BNST GluN2D-Containing NMDA Receptors Influence Anxiety- and Depressive-like Behaviors and ModulateCell-Specific Excitatory/Inhibitory Synaptic Balance. The Journal of neuroscience : the official journal of the Society for Neuroscience (April 2020) Grin2dtm1c(EUCOMM)Wtsi 32277042

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MGI Allele Allele Type Produced
Grin2dtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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