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Gene: Gria3 MGI:95810

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
glutamate receptor, ionotropic, AMPA3 (alpha 3)
Synonyms:
Glur-3,  Gluralpha3,  Glur3,  2900064I19Rik,  GluR3

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.

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 Gria3 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 Gria3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Seizure, Focal tonic seizure, Myoclonus, Limb tremor OMIM:300699
X-Linked Intellectual Disability Due To Gria3 Mutations
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus ORPHA:364028

The table below shows human diseases predicted to be associated to Gria3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Focal impaired awareness seizure, Generalized tonic seizure ORPHA:163985
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Falls, Gait imbalance, Loss o... ORPHA:240094
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... OMIM:300607
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... OMIM:607454
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Status epilepticus, Myoclonus OMIM:618201
Narcolepsy 3
Narcolepsy OMIM:609039
Parkinson Disease 17
Akinesia OMIM:614203
Manganese Poisoning
Akinesia, Aggressive behavior, Hypersexuality, Gait disturbance, Inappropriate laughter, Compulsi... ORPHA:306682
Hyperekplexia 1
Seizure, Exaggerated startle response, Myoclonus, Nocturnal seizures OMIM:149400
Hyperekplexia 3
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Kufor-Rakeb Syndrome
Ataxia, Akinesia, Aggressive behavior, Distal sensory impairment, Gait disturbance, Dysphagia OMIM:606693
Corticobasal Syndrome
Somatic sensory dysfunction, Gait disturbance, Akinesia ORPHA:454887
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Narcolepsy 1
Narcolepsy OMIM:161400
Perry Syndrome
Inappropriate behavior, Disinhibition, Short stepped shuffling gait, Akinesia OMIM:168605
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia ORPHA:247234
Hyperekplexia 2
Exaggerated startle response, Myoclonus OMIM:614619
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus ORPHA:309155
Congenital Myopathy 9A
Akinesia OMIM:618822
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Aggressive behavior OMIM:300894
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Classic Progressive Supranuclear Palsy Syndrome
Impulsivity, Akinesia, Neuromuscular dysphagia, Falls, Gait imbalance ORPHA:240071
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia OMIM:619911
Narcolepsy 7
Narcolepsy OMIM:614250
Gm2 Gangliosidosis, Ab Variant
Seizure, Exaggerated startle response, Dystonia ORPHA:309246
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Tay-Sachs Disease
Seizure, Exaggerated startle response OMIM:272800
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Postencephalitic Parkinsonism
Paresthesia, Akinesia, Dysphagia ORPHA:97349
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Seizure, Exaggerated startle response OMIM:620114
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Torticollis, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Gm2-Gangliosidosis, Ab Variant
Seizure, Exaggerated startle response, Dystonia, Myoclonic seizure OMIM:272750
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Seizure, Focal impaired awareness seizure OMIM:618056
Familial Cold Urticaria
Dysesthesia, Polydipsia ORPHA:47045
Hereditary Late-Onset Parkinson Disease
Impulsivity, Akinesia, Agitation, Shuffling gait, Dysphagia ORPHA:411602
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
East Syndrome
Salt craving, Ataxia, Inability to walk, Difficulty walking, Polydipsia ORPHA:199343
Aceruloplasminemia
Ataxia, Akinesia, Chorea, Limb ataxia, Gait ataxia ORPHA:48818
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Stiff-Person Syndrome
Exaggerated startle response, Myoclonic spasms, Opisthotonus OMIM:184850
Central Diabetes Insipidus
Polydipsia, Anorexia ORPHA:178029
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Choreoathetosis, Gait disturbance, Dysphagia, Obses... OMIM:234200
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoc... OMIM:617281
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Seizure, Exaggerated startle response, Status epilepticus OMIM:617864
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Myoclonic seizure OMIM:620327
Congenital Myopathy 12
Akinesia OMIM:612540
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia OMIM:619147
Gaucher Disease, Perinatal Lethal
Akinesia, Dysphagia OMIM:608013
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Seizure, Exaggerated startle response, Dystonia ORPHA:438216
Supranuclear Palsy, Progressive, 2
Falls, Gait imbalance, Akinesia, Dysphagia OMIM:609454
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Sandhoff Disease
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:268800
Tay-Sachs Disease
Exaggerated startle response, Tremor, Typical absence seizure, Seizure, Focal impaired awareness ... ORPHA:845
Teratoma, Pineal
Polydipsia OMIM:273120
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Cystinosis
Abnormal repetitive mannerisms, Polydipsia, Gait disturbance ORPHA:213
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Supranuclear Palsy, Progressive, 1
Falls, Gait imbalance, Akinesia, Dysphagia OMIM:601104
Brain-Lung-Thyroid Syndrome
Hyperactivity, Ataxia, Abnormal eating behavior, Chorea, Abnormal drinking behavior, Choreoatheto... ORPHA:209905
Dpagt1-Cdg
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, Stereotypical body rocking ORPHA:86309
Ochoa Syndrome
Polydipsia ORPHA:2704
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Dysdiadochokinesis, Salt craving, Ataxia OMIM:612780
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Polydipsia ORPHA:369929
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Tonic seizure, Seizure, Atonic seizure, Focal emotional seizure wit... OMIM:618367
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Asparagine Synthetase Deficiency
Tremor, Clonic seizure, Exaggerated startle response, Seizure OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Seizure, Exaggerated startle response, Generalized-onset seizure OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Seizure, Exaggerated startle response, Dystonia ORPHA:521426
Gm1 Gangliosidosis Type 1
Seizure, Exaggerated startle response, Dystonia ORPHA:79255
Whipple Disease
Polydipsia, Ataxia, Anorexia ORPHA:3452
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Seizure, Exaggerated startle response OMIM:253800
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Pediatric-Onset Graves Disease
Hyperactivity, Polydipsia, Polyphagia ORPHA:525731
Gitelman Syndrome
Polydipsia, Salt craving, Ataxia, Paresthesia OMIM:263800
Nephronophthisis 4
Polydipsia OMIM:606966
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
African Trypanosomiasis
Somatic sensory dysfunction, Akinesia, Aggressive behavior, Impaired proprioception, Choreoatheto... ORPHA:3385
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia OMIM:304800
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Bardet-Biedl Syndrome 17
Polydipsia OMIM:615994
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia ORPHA:223
Nephronophthisis 3
Polydipsia OMIM:604387
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Nephronophthisis 1
Polydipsia OMIM:256100
Apparent Mineralocorticoid Excess
Polydipsia ORPHA:320
Septo-Optic Dysplasia Spectrum
Polydipsia ORPHA:3157
Nephronophthisis 11
Polydipsia OMIM:613550
Wolfram Syndrome
Polydipsia, Ataxia ORPHA:3463
Erdheim-Chester Disease
Polydipsia, Ataxia ORPHA:35687
Senior-Boichis Syndrome
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:84081
Renal Hypoplasia
Polydipsia ORPHA:93101
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Hyperparathyroidism, Neonatal Severe
Polydipsia OMIM:239200
Helix Syndrome
Polydipsia OMIM:617671
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy ORPHA:293987
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Niemann-Pick Disease Type C
Narcolepsy ORPHA:646
Panhypophysitis
Polydipsia ORPHA:95513
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Seizure, Focal tonic seizure, Myoclonus, Limb tremor OMIM:300699
Arima Syndrome
Polydipsia, Ataxia OMIM:243910
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Exaggerated startle response, Seizure, Myoclonus, Dystonia, Bilateral tonic-clon... ORPHA:438213
Oligomeganephronia
Polydipsia ORPHA:2260
Toxic Epidermal Necrolysis
Polydipsia, Dysphagia ORPHA:537
Rabson-Mendenhall Syndrome
Polydipsia ORPHA:769
Hypomagnesemia 3, Renal
Polydipsia OMIM:248250
Infantile Nephropathic Cystinosis
Polydipsia ORPHA:411629
Gitelman Syndrome
Polydipsia, Salt craving, Paresthesia ORPHA:358
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Dysphagia ORPHA:99880
Parathyroid Carcinoma
Polydipsia, Dysphagia ORPHA:143
Distal Renal Tubular Acidosis
Polydipsia ORPHA:18
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia ORPHA:93111
Cystinosis, Nephropathic
Polydipsia, Dysphagia, Oral-pharyngeal dysphagia OMIM:219800
Juvenile Nephropathic Cystinosis
Polydipsia ORPHA:411634
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Seizure, Exaggerated startle response OMIM:619522
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Paresthesia OMIM:241200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia OMIM:602522
Autosomal Recessive Polycystic Kidney Disease
Polydipsia ORPHA:731
Proximal Renal Tubular Acidosis
Polydipsia ORPHA:47159
X-Linked Intellectual Disability Due To Gria3 Mutations
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus ORPHA:364028

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 Gria3

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 Gria3.

No publications found that use IMPC mice or data for Gria3.

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MGI Allele Allele Type Produced
Gria3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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