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Gene: Grin2a MGI:95820

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Gene Summary

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

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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
Generalized clonic seizure, Nocturnal seizures, Gait ataxia, Aggressive behavior, Depression, Non... ORPHA:98818
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, P... ORPHA:1945
Continuous Spikes And Waves During Sleep
Aggressive behavior, Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, Bilateral to... ORPHA:725
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder OMIM:245570
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... 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
Paresthesia, Depression, Somatic sensory dysfunction, Anxiety, Impaired pain sensation ORPHA:398147
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Semantic Dementia
Abulia, Dementia ORPHA:100069
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
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
Cognitive impairment, Personality disorder, Aggressive behavior, Depression OMIM:615005
Anterior Cutaneous Nerve Entrapment Syndrome
Abdominal pain, Back pain, Allodynia ORPHA:51890
Epilepsy, Progressive Myoclonic, 12
Depression, Ataxia, Bilateral tonic-clonic seizure, Anxiety, Dysmetria, Myoclonus, Mental deterio... OMIM:619191
Chorea, Benign Hereditary
Chorea, Anxiety OMIM:118700
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Chorea, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impairment ORPHA:401901
Geniospasm 1
Anxiety OMIM:190100
Creutzfeldt-Jakob Disease
Gait ataxia, Dementia, Depression, Apathy, Irritability, Anxiety, Myoclonus, Memory impairment OMIM:123400
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Chorea, Anxiety, Cognitive impairment, Athetosis OMIM:615483
Huntington Disease-Like 1
Aggressive behavior, Dementia, Depression, Chorea, Anxiety, Dysmetria OMIM:603218
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Motor deterioration, Anxiety, Inappropriate b... ORPHA:412066
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Anxiety ORPHA:494541
Benign Schwannoma
Pain, Allodynia ORPHA:252164
Huntington Disease-Like 2
Dementia, Depression, Apathy, Chorea, Irritability, Anxiety OMIM:606438
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Paroxysmal choreoathetosis, Anxiety, Generalized-onset seizure OMIM:602066
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior... ORPHA:168782
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Personality disorder, Depression, Panic attack, Anxiety, Myoclonus, Limb myoclonus ORPHA:36899
Pandas
Claustrophobia, Depression, Chorea, Agoraphobia, Separation insecurity, Emotional lability, Impul... ORPHA:66624
Landau-Kleffner Syndrome
Generalized clonic seizure, Nocturnal seizures, Gait ataxia, Aggressive behavior, Depression, Non... ORPHA:98818
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Dementia, Depression, Progressive cerebellar ataxia, Anxiety, Dysmetria OMIM:604326
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Parkinson Disease 6, Autosomal Recessive Early-Onset
Anxiety, Dementia, Depression OMIM:605909
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, P... ORPHA:1945
Spinocerebellar Ataxia 48
Gait ataxia, Depression, Chorea, Ataxia, Bilateral tonic-clonic seizure, Irritability, Anxiety, D... OMIM:618093
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Gm2 Gangliosidosis, Ab Variant
Chorea, Seizure, Anxiety, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Cogniti... ORPHA:309246
Continuous Spikes And Waves During Sleep
Aggressive behavior, Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, Bilateral to... ORPHA:725
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder OMIM:245570
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
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 Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Sandhoff Disease
Exaggerated startle response OMIM:268800
Tay-Sachs Disease
Tremor, Exaggerated startle response ORPHA:845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response ORPHA:521426
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response ORPHA:438213
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... 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

Order Mouse and ES Cells

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

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