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Gene: Grin2a MGI:95820

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Gene Summary

Name:
glutamate receptor, ionotropic, NMDA2A (epsilon 1)
Synonyms:
GluN2A,  NMDAR2A,  GluRepsilon1,  NR2A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

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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.

Legacy Phenotype Associated Images
Grin2atm1Rsp
body, HOM, Female, WTSI
Grin2atm1Rsp
body, HOM, Female, WTSI
Grin2atm1Rsp
head, HOM, Female, WTSI
Grin2atm1Rsp
head, HOM, Female, WTSI
Grin2atm1Rsp
body, HOM, Female, WTSI

View all 114 images

Grin2atm1Rsp
eye, corneal opacity, cataracts, cornea/lens fusion, HOM, Female, WTSI

Human diseases caused by Grin2a 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 Grin2a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Landau-Kleffner Syndrome
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Focal motor seiz... ORPHA:98818
Rolandic Epilepsy
Atypical absence seizure, Focal hemifacial clonic seizure, Emotional lability, Depression, Bilate... ORPHA:1945
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:245570
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure ORPHA:163721
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Generalized tonic seizure, Myoclonus, Epileptic spasm, Febrile seizure (within the age range of 3... ORPHA:289266

The table below shows human diseases predicted to be associated to Grin2a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Persistent Idiopathic Facial Pain
Depression, Anxiety, Somatic sensory dysfunction, Paresthesia, Impaired pain sensation ORPHA:398147
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... ORPHA:280397
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Semantic Dementia
Abulia, Dementia ORPHA:100069
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Complex Regional Pain Syndrome
Limb pain, Allodynia ORPHA:83452
Trigeminal Neuralgia
Ocular pain, Mandibular pain, Trigeminal neuralgia, Allodynia ORPHA:221091
Epilepsy, Nocturnal Frontal Lobe, 5
Depression, Personality disorder, Aggressive behavior, Cognitive impairment OMIM:615005
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Chorea, Athetosis, Dementia OMIM:615483
Anterior Cutaneous Nerve Entrapment Syndrome
Back pain, Allodynia, Abdominal pain ORPHA:51890
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Mental deterioration, Myoclonus, Anxiety, Bilateral tonic-clonic s... OMIM:619191
Chorea, Benign Hereditary
Anxiety, Chorea OMIM:118700
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Inappropriate behavior, Chorea, Mem... ORPHA:401901
Geniospasm 1
Anxiety OMIM:190100
Creutzfeldt-Jakob Disease
Apathy, Depression, Myoclonus, Anxiety, Memory impairment, Gait ataxia, Irritability, Dementia OMIM:123400
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Chorea, Aggressive behavior, Dementia OMIM:603218
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Motor deterioration, Inertia, Frontot... ORPHA:412066
Benign Schwannoma
Pain, Allodynia ORPHA:252164
Huntington Disease-Like 2
Apathy, Depression, Anxiety, Chorea, Irritability, Dementia OMIM:606438
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal choreoathetosis, Anxiety, Generalized-onset seizure, Focal-onset seizure OMIM:602066
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Depression, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Personality disorder ORPHA:36899
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... ORPHA:168782
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Chorea, Separation ... ORPHA:66624
Landau-Kleffner Syndrome
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Focal motor seiz... ORPHA:98818
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Impulsivity, Generalized myoclonic ... ORPHA:101039
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Rolandic Epilepsy
Atypical absence seizure, Focal hemifacial clonic seizure, Emotional lability, Depression, Bilate... ORPHA:1945
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Anxiety, Dementia OMIM:605909
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Abdominal cramps, Allodynia, Abdominal pain OMIM:603041
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Chorea, Bilateral tonic-clonic seiz... OMIM:618093
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Cognitive impairment, Anxiety, Inappropriate behavior, Ch... ORPHA:309246
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Tay-Sachs Disease
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia ORPHA:845
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:245570
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Sandhoff Disease
Exaggerated startle response OMIM:268800
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure ORPHA:163721
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Generalized tonic seizure, Myoclonus, Epileptic spasm, Febrile seizure (within the age range of 3... ORPHA:289266

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 Grin2a

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 Grin2a.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Grin2atm1Rsp PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Grin2atm1Rsp PMC6459510

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MGI Allele Allele Type Produced
Grin2atm297530(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Grin2atm39012(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Grin2atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Grin2atm39012(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Grin2atm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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