Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
nuclear receptor subfamily 4, group A, member 2
Synonyms:
Nurr1,  RNR-1,  HZF-3

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.

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 Nr4a2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nr4a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Diabetes Mellitus, Transient Neonatal, 1
Dehydration, Transient neonatal diabetes mellitus OMIM:601410
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Diarrhea 2, With Microvillus Atrophy
Death in infancy, Dehydration OMIM:251850
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Gilbert Syndrome
Dehydration OMIM:143500
Joubert Syndrome 13
Pachygyria, Molar tooth sign on MRI OMIM:614173
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Transient neonata... ORPHA:99886
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Dysphagia, Perisylvian polymicrogyria, Megalencephaly, Hypoplasia o... ORPHA:280195
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Chronic Hiccup
Dehydration ORPHA:396
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration OMIM:143860
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating corticosterone level, Increased ci... OMIM:610600
Inflammatory Skin And Bowel Disease, Neonatal, 2
Edema, Dehydration OMIM:616069
Immunodeficiency 8
Hyperactivity OMIM:615401
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity ORPHA:85288
Enteric Anendocrinosis
Dehydration, Type I diabetes mellitus ORPHA:83620
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Paragangliomas 3
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Episodic paroxysmal anxiety, Chemodectom... OMIM:605373
Joubert Syndrome 27
Ataxia, Molar tooth sign on MRI OMIM:617120
Paragangliomas 1
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Episodi... OMIM:168000
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon... ORPHA:96369
Familial Renal Glucosuria
Dehydration ORPHA:69076
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Hypoplasia of the pons, Dysgenesis of the basal gangl... ORPHA:300573
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Joubert Syndrome 33
Ataxia, Molar tooth sign on MRI OMIM:617767
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebral... ORPHA:166024
Adrenal Hypoplasia, Congenital
Decreased circulating aldosterone level, Adrenal insufficiency, Dehydration, Hypogonadotropic hyp... OMIM:300200
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circ... OMIM:177735
Joubert Syndrome 25
Ataxia, Molar tooth sign on MRI OMIM:616781
Juvenile Huntington Disease
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ata... ORPHA:248111
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... ORPHA:556030
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum, Anencephaly, Hydrocephalus OMIM:614120
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Ataxia, Abnormality ... ORPHA:99852
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Attention deficit hyperactivity disorder, Increased circ... OMIM:188570
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior, Elevated circulating growth hormone concentration, Decreased ... ORPHA:85327
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Dehydration OMIM:264350
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Truncal ataxia OMIM:617761
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Reticular Dysgenesis
Dehydration, Aplasia/Hypoplasia of the thymus ORPHA:33355
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level, Dehydration OMIM:203400
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Ataxia, Molar tooth sign on MRI, Elongated superior cereb... OMIM:609583
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Central Diabetes Insipidus
Dehydration, Diabetes insipidus ORPHA:178029
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, Hyperactivity, Personality disorder, Mental deterioration ORPHA:2382
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... ORPHA:98818
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Meckel Syndrome 13
Ataxia, Molar tooth sign on MRI OMIM:617562
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia OMIM:609425
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Hy... OMIM:617542
X-Linked Adrenoleukodystrophy
Gait disturbance, Dementia, Adrenal insufficiency, Aggressive behavior, Cognitive impairment, Ina... ORPHA:43
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... ORPHA:90791
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Joubert Syndrome 7
Brainstem dysplasia, Abnormal corpus callosum morphology, Ataxia, Hypoplasia of the brainstem, Mo... OMIM:611560
Diarrhea 1, Secretory Chloride, Congenital
Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism, Polyhydramnios OMIM:214700
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Dystonia, Hyperactivity, Ataxia OMIM:615924
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Familial Cold Urticaria
Dehydration ORPHA:47045
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Nephrogenic diabetes insipidus, Dehydration OMIM:208085
Joubert Syndrome 10
Molar tooth sign on MRI OMIM:300804
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Joubert Syndrome 15
Ataxia, Molar tooth sign on MRI OMIM:614464
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Diabetes mellitus, Type I diabetes mellitus OMIM:560000
Joubert Syndrome 28
Ataxia, Molar tooth sign on MRI OMIM:617121
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Slc35A2-Cdg
Abnormal midbrain morphology, Atrophy/Degeneration affecting the brainstem, Cerebral white matter... ORPHA:356961
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Gait disturbance, Abnormal po... ORPHA:206448
Isovaleric Acidemia
Dehydration OMIM:243500
Joubert Syndrome 32
Ataxia, Molar tooth sign on MRI, Polymicrogyria OMIM:617757
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Oligohydramnios, Dehydration OMIM:263200
Generalized Pseudohypoaldosteronism Type 1
Increased circulating renin level, Dehydration, Abnormal circulating aldosterone, Glucocortocoid-... ORPHA:171876
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Cystinosis
Nephrogenic diabetes insipidus, Type I diabetes mellitus, Hypothyroidism, Dehydration, Delayed pu... ORPHA:213
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration ORPHA:79312
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior, Decreased response to growth hormone stimulation test OMIM:615286
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Precocious puberty, Broad-based gait ORPHA:457260
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability, Graves disease, Goiter OMIM:275000
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Aggressive behavior, Ataxia OMIM:612716
Coach Syndrome 3
Ataxia, Molar tooth sign on MRI OMIM:619113
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait ORPHA:411515
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Anencephaly OMIM:614175
Spinocerebellar Ataxia Type 1
Gait disturbance, Dysphagia, Dystonia, Gait imbalance, Dysmetria, Atrophy/Degeneration affecting ... ORPHA:98755
Joubert Syndrome 18
Molar tooth sign on MRI OMIM:614815
Vipoma
Adrenocortical adenoma, Ascites, Increased circulating cortisol level, Increased circulating gona... ORPHA:97282
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Cognitive impairment, Hyperactivity, Ataxia, Gait ataxia, ... ORPHA:363400
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Lethal Congenital Contracture Syndrome 1
Neonatal death, Paucity of anterior horn motor neurons, Edema OMIM:253310
Joubert Syndrome 22
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Temporal cortical atrophy OMIM:615665
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity OMIM:301013
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Cln5 Disease
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... ORPHA:228360
Joubert Syndrome 17
Ataxia, Molar tooth sign on MRI OMIM:614615
Harlequin Ichthyosis
Dehydration ORPHA:457
Joubert Syndrome With Renal Defect
Gait disturbance, Abnormality of the hypothalamus-pituitary axis, Ataxia, Molar tooth sign on MRI... ORPHA:220497
Autosomal Agammaglobulinemia
Dehydration ORPHA:33110
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter OMIM:618718
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Meckel Syndrome, Type 4
Meningocele, Anencephaly, Molar tooth sign on MRI, Hydrocephalus, Hypoplasia of the corpus callos... OMIM:611134
Joubert Syndrome 35
Ataxia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:618161
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... ORPHA:485350
Joubert Syndrome 16
Molar tooth sign on MRI OMIM:614465
Joubert Syndrome 3
Ataxia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:608629
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Aggressive behavior, Impulsivity ORPHA:101039
Rasmussen Subacute Encephalitis
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Emotional lability, Irritab... ORPHA:1929
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Wolcott-Rallison Syndrome
Central hypothyroidism, Ascites, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, De... ORPHA:1667
Secondary Short Bowel Syndrome
Central hypothyroidism, Primary hypothyroidism, Dehydration ORPHA:95427
Lamellar Ichthyosis
Dehydration ORPHA:313
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons morphology, Abn... ORPHA:68
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Depression, Impulsivity ORPHA:88616
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating aldosterone level, Elevated circulating follicle stimulating hormone level,... ORPHA:289548
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia ORPHA:500180
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Bartter Syndrome, Type 3
Increased circulating renin level, Hyperactive renin-angiotensin system, Hyperaldosteronism, Dehy... OMIM:607364
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating aldosterone level, Elevated circulating follicle stimulating hormone level,... ORPHA:168558
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Hyperactivity, Hyperthyroidism, Irritability, Diabe... ORPHA:449291
Propionic Acidemia
Dehydration OMIM:606054
Joubert Syndrome With Oculorenal Defect
Abnormality of the hypothalamus-pituitary axis, Ataxia, Molar tooth sign on MRI, Aplasia/Hypoplas... ORPHA:2318
Joubert Syndrome With Ocular Defect
Gait disturbance, Abnormality of the hypothalamus-pituitary axis, Ataxia, Molar tooth sign on MRI... ORPHA:220493
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Ataxia, Molar tooth sign on MRI, Elongated superior cereb... OMIM:610688
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Multiple Endocrine Neoplasia Type 1
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Intestinal carcinoid... ORPHA:652
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Precocious puberty, Broad-based gait OMIM:300958
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Joubert Syndrome 30
Molar tooth sign on MRI OMIM:617622
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Cognitive impairment, Hyperactivity, Ataxia, Decreased response to growt... OMIM:601853
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis OMIM:276822
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration, Diabetes insipidus OMIM:304800
Joubert Syndrome 2
Brainstem dysplasia, Abnormal corpus callosum morphology, Thickened superior cerebellar peduncle,... OMIM:608091
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration, Nephrogenic diabetes insipidus OMIM:125800
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Joubert Syndrome 9
Molar tooth sign on MRI OMIM:612285
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Decreased circulating aldosterone level, Increased serum test... ORPHA:90794
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior OMIM:300558
Netherton Syndrome
Dehydration ORPHA:634
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Molar tooth sign on MRI OMIM:277170
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
47,Xyy Syndrome
Increased serum testosterone level, Increased circulating gonadotropin level, Abnormal brainstem ... ORPHA:8
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Small pituitary gland, Molar tooth sign on MRI, Ect... OMIM:619476
Dopamine Beta-Hydroxylase Deficiency
Dehydration, Hyperinsulinemia ORPHA:230
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Aggressive behavior, Hypogonadism, Hyperactivity, Gait ataxia, Delayed puberty OMIM:300354
Japanese Encephalitis
Abnormal midbrain morphology, Abnormal pons morphology, Dystonia, Inappropriate antidiuretic horm... ORPHA:79139
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frustration tolera... ORPHA:163681
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Dementia, Motor deterioration, Aggressive behavior, Hyperactivity, Inability to... ORPHA:168491
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Orofaciodigital Syndrome Xvi
Ataxia, Inability to walk, Molar tooth sign on MRI OMIM:617563
Infantile Neuroaxonal Dystrophy
Gait disturbance, Dystonia, Hyperactivity, Ataxia, Emotional lability, Impulsivity, Psychomotor d... ORPHA:35069
Beta-Ketothiolase Deficiency
Edema, Dehydration ORPHA:134
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Inverted Duplicated Chromosome 15 Syndrome
Self-biting, Aggressive behavior, Hypogonadism, Hyperactivity, Precocious puberty ORPHA:3306
Methylmalonic Aciduria, Cbla Type
Dehydration OMIM:251100
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia OMIM:614104
Joubert Syndrome 1
Brainstem dysplasia, Occipital myelomeningocele, Hyperactivity, Hypoplasia of the brainstem, Mola... OMIM:213300
Joubert Syndrome 37
Hypoplasia of the corpus callosum, Molar tooth sign on MRI OMIM:619185
16P12.1P12.3 Triplication Syndrome
Skin-picking, Decreased response to growth hormone stimulation test, Hyperactivity, Anxiety, Atte... ORPHA:485405
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Renal Hypoplasia
Dehydration ORPHA:93101
Pediatric-Onset Graves Disease
Mood swings, Increased circulating T4 level, Goiter, Puberty and gonadal disorders, Hyperactivity... ORPHA:525731
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyperactivity, Inab... OMIM:103050
Joubert Syndrome 8
Ataxia, Molar tooth sign on MRI OMIM:612291
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Primary adrenal insufficiency, Hyperactivity, Inability to walk, Ata... ORPHA:139396
Gangliocytoma
Abnormal prolactin level, Polyphagia, Abnormality of the pituitary gland, Abnormal brainstem morp... ORPHA:251937
Familial Acute Necrotizing Encephalopathy
Gait disturbance, Abnormal putamen morphology, Abnormal brainstem morphology, Cerebral edema, Abn... ORPHA:88619
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Abnormal hypothalamus morphology, Abnormality of the pituitary glan... ORPHA:314621
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, Progressive language deterioration OMIM:610042
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter, Ataxia ORPHA:228402
3-Hydroxy-3-Methylglutaric Aciduria
Edema, Dehydration ORPHA:20
Smith-Magenis Syndrome
Hyperactivity, Self-mutilation, Head-banging, Abnormality of the thyroid gland OMIM:182290
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal emotion/... ORPHA:1942
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Emotional lability, Dysdiadochokinesis, Impulsi... OMIM:610217
Dend Syndrome
Dehydration ORPHA:79134
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
Osteootohepatoenteric Syndrome
Dehydration OMIM:619377
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
Paternal Uniparental Disomy Of Chromosome 6
Oligohydramnios, Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Dehydration ORPHA:96191
Fragile X-Associated Tremor/Ataxia Syndrome
Gait disturbance, Dysphagia, Dysmetria, Bradykinesia, Abnormal brainstem morphology, Ataxia, Hypo... ORPHA:93256
Netherton Syndrome
Hypernatremic dehydration, Angioedema OMIM:256500
Coach Syndrome 1
Dystonia, Molar tooth sign on MRI, Ataxia OMIM:216360
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Cholera
Dehydration ORPHA:173
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Nephrogenic diabetes insipidus, Polyhydramnios ORPHA:223
Oligomeganephronia
Dehydration ORPHA:2260
Von Hippel-Lindau Disease
Adrenal pheochromocytoma, Pancreatic endocrine tumor, Pancreatic islet cell adenoma, Paragangliom... ORPHA:892
Pearson Syndrome
Adrenal insufficiency, Hypoparathyroidism, Corneal stromal edema, Diabetes mellitus, Hypothyroidi... ORPHA:699
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Dehydration, Reduced pancreatic beta cells ORPHA:99885
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Diabetes insipidus, Joint swelling, Hyperparathyroidism, Abnormal calcium-phosp... ORPHA:534
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Congenital hypothyroidism, Diabetes mellitus OMIM:614613
Colchicine Poisoning
Dehydration ORPHA:31824
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Polyhydramnios, Hyperparathyroidism, Hyperaldosteronism, In... OMIM:601678
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Periventricula... ORPHA:444072
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Meningocele, Colpocephaly, Abnormal corpus callosum morphology, Absent s... ORPHA:397715
Infantile Nephropathic Cystinosis
Dehydration, Abnormality of thyroid physiology ORPHA:411629
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dehydration, Hydrops fetalis ORPHA:79282
Intellectual Disability-Strabismus Syndrome
Gait disturbance, Decreased serum insulin-like growth factor 1, Aggressive behavior, Hyperactivit... ORPHA:363528
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Anxiety, Aggressive behavior, Ataxia OMIM:618430
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Central hypothyroidism, Polyphagia, Polydipsia, Premature adrenarch... ORPHA:293987
Cri-Du-Chat Syndrome
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Anxiety, Di... OMIM:123450
Shigellosis
Dehydration ORPHA:810
Arima Syndrome
Occipital meningocele, Brainstem dysplasia, Ataxia, Hypoplasia of the brainstem, Molar tooth sign... OMIM:243910
Lysosomal Acid Lipase Deficiency
Ascites, Dehydration, Primary adrenal insufficiency, Adrenal calcification ORPHA:275761
19P13.3 Microduplication Syndrome
Self-injurious behavior, Hyperactivity, Irritability, Precocious puberty ORPHA:447980
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Molar tooth sign on MRI, Polymicrogyria, Anencephaly, Hydrocephalus OMIM:616546
Alternating Hemiplegia Of Childhood
Dehydration ORPHA:2131
Hyperthyroidism, Nonautoimmune
Hyperactivity, Hyperthyroidism, Thyroid hyperplasia, Goiter OMIM:609152
Pyruvate Carboxylase Deficiency
Dehydration ORPHA:3008
Infantile Bartter Syndrome With Sensorineural Deafness
Hyperactive renin-angiotensin system, Polyhydramnios, Hyperaldosteronism, Increased circulating r... ORPHA:89938
Cystinosis, Nephropathic
Primary hypothyroidism, Male hypogonadism, Diabetes mellitus, Dehydration, Delayed puberty OMIM:219800
Neuroleptic Malignant Syndrome
Dehydration ORPHA:94093
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Gait imbalance, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait ORPHA:98794
Angelman Syndrome
Precocious puberty in females, Happy demeanor, Self-injurious behavior, Aggressive behavior, Inap... ORPHA:72
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Molar tooth sign on MRI, Hypoplasia of the corpus callosum, Secondar... OMIM:619306
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Self-mutilation, Low frustration tolerance, Gait ataxia OMIM:300486
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Self-mutilation, Low frustration tolerance, Inappropriate laughter ORPHA:363686
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Polyhydramnios, Hyperaldosteronism, Increased circulating r... OMIM:241200
Microsporidiosis
Adrenocortical abnormality, Thyroiditis, Abnormality of the parathyroid gland, Dehydration ORPHA:2552
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
Juvenile Nephropathic Cystinosis
Dehydration, Hypothyroidism ORPHA:411634
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
Citrullinemia Type Ii
Aggressive behavior, Hyperactivity, Irritability, Delayed menarche, Memory impairment, Lethargy ORPHA:247585
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Dehydration ORPHA:90038
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance OMIM:309520
Distal Renal Tubular Acidosis
Dehydration ORPHA:18
Familial Gestational Hyperthyroidism
Thyroid hyperplasia, Goiter, Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormo... ORPHA:99819
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Absent mesencephalon OMIM:601374
Orofaciodigital Syndrome Type 6
Gait disturbance, Hypothalamic hamartoma, Ataxia, Molar tooth sign on MRI, Aplasia/Hypoplasia of ... ORPHA:2754
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Precocious puberty, Hypothyroidism ORPHA:254346
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyroid hyperplasia, Goiter, Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormo... ORPHA:424
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hyperactivity, Aggressive behavior, Shuffling gait, Low frustration tolerance OMIM:300534
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... ORPHA:2388
Intellectual Developmental Disorder, X-Linked 98
Central hypothyroidism, Self-biting, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:300912
Severe Generalized Junctional Epidermolysis Bullosa
Edema, Dehydration ORPHA:79404
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:85293
Joubert Syndrome 5
Thickened superior cerebellar peduncle, Ataxia, Molar tooth sign on MRI OMIM:610188
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Molar tooth sign on MRI, Patent ductus arteriosus OMIM:616300
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Small... OMIM:619479
Wiedemann-Steiner Syndrome
Aggressive behavior, Hyperactivity, Low frustration tolerance, Psychomotor deterioration, Anxiety... ORPHA:319182
Angelman Syndrome
Hyperactivity, Paroxysmal bursts of laughter, Progressive gait ataxia, Broad-based gait OMIM:105830
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Brain-Lung-Thyroid Syndrome
Dystonia, Hypoparathyroidism, Congenital hypothyroidism, Falls, Thyroid hemiagenesis, Hyperactivi... ORPHA:209905
Marburg Hemorrhagic Fever
Dehydration ORPHA:99826
Proximal Renal Tubular Acidosis
Dehydration ORPHA:47159
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Motor deterioration OMIM:252930
Joubert Syndrome 39
Molar tooth sign on MRI OMIM:619562
Cystic Fibrosis
Dehydration OMIM:219700
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pheochromocytoma, Self-injurious behavior, Aggressive behavior, Pitui... ORPHA:805
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Dementia, Dystonia, Bradykinesia, Blepharospasm, Hyperactivity, Ataxia, Akinesi... OMIM:234200
Argininemia
Hyperactivity, Spastic gait, Irritability OMIM:207800
Orofaciodigital Syndrome Xiv
Holoprosencephaly, Simplified gyral pattern, Patent ductus arteriosus, Molar tooth sign on MRI, P... OMIM:615948
Acrodysostosis With Multiple Hormone Resistance
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Hypogonadism, Hyperact... ORPHA:280651
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait OMIM:614756
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Molar... ORPHA:434179
Legius Syndrome
Attention deficit hyperactivity disorder, Dystonia, Cognitive impairment, Hyperactivity ORPHA:137605
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Dystonia, Violent behavior, Torticollis, Suicidal ideation, Cognitive impairment, Aggressive beha... OMIM:619475
Early Infantile Epileptic Encephalopathy
Dystonia, Self-injurious behavior, Hyperactivity, Episodic ataxia, Precocious puberty ORPHA:1934
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability ORPHA:447997
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353281
Histidinemia
Hyperactivity ORPHA:2157
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Hyperactivity, Impulsivity, Difficulty walking, Abnormal emotion/affect behavior... ORPHA:642

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 Nr4a2

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 Nr4a2.

No publications found that use IMPC mice or data for Nr4a2.

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MGI Allele Allele Type Produced
Nr4a2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Nr4a2tm441844(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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