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.

The table below shows human diseases associated to Nr4a2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait OMIM:619911
Autosomal Dominant Dopa-Responsive Dystonia
Abnormal substantia nigra morphology, Gait ataxia, Hypothyroidism, Ataxia, Compulsive behaviors, ... ORPHA:98808

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Hyperthyroxinemia, Familial Dysalbuminemic
Abnormal thyroid-stimulating hormone level, Increased circulating free T4 concentration, Euthyroi... OMIM:615999
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Dehydration OMIM:601410
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Dehydration OMIM:251850
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Hypothyroidism, Mater... ORPHA:99886
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Neonatal death OMIM:602199
Chronic Hiccup
Dehydration ORPHA:396
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity ORPHA:85288
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Septopreoptic Holoprosencephaly
Precocious puberty, Abnormal midbrain morphology, Hypoplasia of the pons, Central diabetes insipi... ORPHA:280195
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Increased circulating corticosterone level, Decr... OMIM:610600
Hartnup Disorder
Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia, Hyperactivity OMIM:234500
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati... ORPHA:240094
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Irritability, Polyphagia, Increased circul... OMIM:275000
Enteric Anendocrinosis
Type I diabetes mellitus, Dehydration ORPHA:83620
Joubert Syndrome 20
Inability to walk, Aggressive behavior, Self-mutilation, Molar tooth sign on MRI OMIM:614970
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Dehydration, Increased circulating renin level OMIM:620126
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Spinocerebellar Ataxia Type 27
Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Truncal ataxia ORPHA:98764
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Dehydration, Increased circulating renin level OMIM:620125
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Joubert Syndrome 25
Molar tooth sign on MRI, Ataxia OMIM:616781
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Familial Renal Glucosuria
Dehydration ORPHA:69076
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration OMIM:616069
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI, Ataxia OMIM:617562
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Dehydration OMIM:143880
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Dehydration, I... OMIM:177735
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
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hypothyroidism, Motor tics, Hyperactivity, Compulsive b... OMIM:619927
Ravine Syndrome
Anorexia, Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Ataxia ORPHA:99852
Landau-Kleffner Syndrome
Memory impairment, Depression, Short attention span, Emotional lability, Gait ataxia, Aggressive ... ORPHA:98818
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Dehydration OMIM:264350
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Irritability, Aggressive behavior, Hyperactivity ORPHA:2382
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Dehydration ORPHA:33355
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia ORPHA:98773
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in adolescence, Type I diabetes mellitus, Death in childhood, Dehydration OMIM:560000
Central Diabetes Insipidus
Diabetes insipidus, Dehydration ORPHA:178029
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... OMIM:609583
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Hyperactivity, Ataxia, Dementia, Progres... ORPHA:248111
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Dehydration, Increased circulating renin level OMIM:203400
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema ORPHA:103910
Joubert Syndrome 31
Truncal ataxia, Molar tooth sign on MRI OMIM:617761
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circul... ORPHA:85327
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia ORPHA:391411
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Joubert Syndrome 15
Exencephaly, Molar tooth sign on MRI, Ataxia OMIM:614464
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Joubert Syndrome 33
Molar tooth sign on MRI, Ataxia OMIM:617767
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Molar tooth sign on MRI OMIM:614120
Joubert Syndrome 7
Hypoplasia of the brainstem, Brainstem dysplasia, Encephalocele, Molar tooth sign on MRI, Ataxia OMIM:611560
Joubert Syndrome 27
Gait ataxia, Molar tooth sign on MRI, Ataxia OMIM:617120
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Cerebrooculofacioskeletal Syndrome 1
Death in childhood, Dehydration OMIM:214150
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... OMIM:168000
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... OMIM:605373
Familial Cold Urticaria
Dehydration ORPHA:47045
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity OMIM:618090
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level, Disin... ORPHA:43
Joubert Syndrome 28
Molar tooth sign on MRI, Ataxia OMIM:617121
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Depression, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:619467
Joubert Syndrome 6
Hypoplasia of the brainstem, Elongated superior cerebellar peduncle, Thickened superior cerebella... OMIM:610688
Joubert Syndrome 10
Dysmetria, Polyphagia, Frequent temper tantrums, Molar tooth sign on MRI OMIM:300804
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Polyhydramnios, Hyperactive renin-angiotensin system, Dehydration, Increased ... OMIM:214700
Generalized Pseudohypoaldosteronism Type 1
Abnormal circulating aldosterone, Increased circulating renin level, Dehydration, Glucocortocoid-... ORPHA:171876
Spinocerebellar Ataxia 21
Akinesia, Limb ataxia, Gait ataxia, Ataxia, Progressive cerebellar ataxia OMIM:607454
Parkinson Disease 17
Akinesia OMIM:614203
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI OMIM:614465
Isovaleric Acidemia
Dehydration OMIM:243500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration ORPHA:79312
Corticobasal Syndrome
Akinesia, Gait disturbance, Somatic sensory dysfunction ORPHA:454887
Cystinosis
Type I diabetes mellitus, Hypothyroidism, Delayed puberty, Nephrogenic diabetes insipidus, Dehydr... ORPHA:213
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Short attention span, Hyperactivity, Elevated circu... OMIM:608747
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha... ORPHA:449291
Coach Syndrome 3
Molar tooth sign on MRI, Ataxia OMIM:619113
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Broad-based gait, Gait distu... ORPHA:206448
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Oligohydramnios, Nephrogenic diabetes insipidus, Dehydration OMIM:208085
Coach Syndrome 2
Hydrocephalus, Molar tooth sign on MRI OMIM:619111
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Joubert Syndrome 32
Molar tooth sign on MRI, Ataxia OMIM:617757
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Carnitine Deficiency, Systemic Primary
Dehydration OMIM:212140
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f... OMIM:609152
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI OMIM:617127
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Edema, Neonatal death OMIM:253310
Lymphatic Malformation 12
Fetal ascites, Lymphedema, Neonatal death, Nonimmune hydrops fetalis, Death in adolescence, Polyh... OMIM:620014
Slc35A2-Cdg
Precocious puberty, Abnormal midbrain morphology, Elevated circulating thyroid-stimulating hormon... ORPHA:356961
Harlequin Ichthyosis
Dehydration ORPHA:457
Autosomal Agammaglobulinemia
Dehydration ORPHA:33110
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI OMIM:612285
Neuroblastoma
Ataxia, Elevated circulating catecholamine level, Antalgic gait, Irritability ORPHA:635
Vipoma
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... ORPHA:97282
Congenital Myopathy 9A
Akinesia OMIM:618822
Propionic Acidemia
Dehydration OMIM:606054
Joubert Syndrome 35
Elongated superior cerebellar peduncle, Molar tooth sign on MRI, Ataxia OMIM:618161
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Ascites, Hypothyroidism, De... ORPHA:1667
Secondary Short Bowel Syndrome
Central hypothyroidism, Dehydration, Primary hypothyroidism ORPHA:95427
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait OMIM:619911
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Akinesia, Hydranencephaly OMIM:225790
Joubert Syndrome With Renal Defect
Encephalocele, Gait disturbance, Hydrocephalus, Molar tooth sign on MRI, Ataxia, Abnormality of t... ORPHA:220497
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:620242
Lamellar Ichthyosis
Dehydration ORPHA:313
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Meningocele, Anencephaly OMIM:611134
Kufor-Rakeb Syndrome
Akinesia, Gait disturbance, Distal sensory impairment, Ataxia OMIM:606693
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Oligohydramnios, Dehydration, Neonatal death OMIM:263200
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Precocious puber... ORPHA:90794
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Abnormal temper tantrums, Mental deterioration, Low frustration tolerance, Se... ORPHA:163681
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Molar tooth sign on MRI, Ataxia OMIM:608629
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Adrenal calcification, Absence of secondary sex c... ORPHA:289548
Joubert Syndrome 18
Occipital encephalocele, Molar tooth sign on MRI OMIM:614815
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Akinesia, Gait ataxia, Ataxia, Dysdiadochokinesis ORPHA:247234
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Absence of secondary sex characteristics, Increas... ORPHA:168558
Joubert Syndrome 17
Molar tooth sign on MRI, Ataxia OMIM:614615
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Ataxia, Abnormality of the hypothalamus-pi... ORPHA:2318
Aceruloplasminemia
Chorea, Limb ataxia, Gait ataxia, Akinesia, Ataxia, Diabetes mellitus ORPHA:48818
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Mitochondrial Complex I Deficiency, Nuclear Type 28
Truncal ataxia, Akinesia, Choreoathetosis OMIM:618249
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Joubert Syndrome With Ocular Defect
Encephalocele, Gait disturbance, Hydrocephalus, Molar tooth sign on MRI, Ataxia, Abnormality of t... ORPHA:220493
Joubert Syndrome 22
Molar tooth sign on MRI OMIM:615665
Joubert Syndrome 14
Hypoplasia of the brainstem, Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Ataxia, Menin... OMIM:614424
Bartter Syndrome, Type 3
Hyperaldosteronism, Hyperactive renin-angiotensin system, Dehydration, Increased circulating reni... OMIM:607364
Netherton Syndrome
Dehydration ORPHA:634
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Diabetes insipidus, Hypertonic dehydration OMIM:304800
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Male hypogonadism, Memory impairment, Difficulty walking, Confusion, Inabil... ORPHA:139396
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Hypertonic dehydration OMIM:125800
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI, Ataxia OMIM:612291
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration OMIM:615453
Joubert Syndrome 1
Hypoplasia of the brainstem, Brainstem dysplasia, Occipital myelomeningocele, Self-mutilation, Ag... OMIM:213300
Joubert Syndrome 2
Hypoplasia of the brainstem, Brainstem dysplasia, Encephalocele, Elongated superior cerebellar pe... OMIM:608091
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death OMIM:276822
Joubert Syndrome 30
Molar tooth sign on MRI OMIM:617622
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration OMIM:616271
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Death in childhood, Dehydration OMIM:246450
47,Xyy Syndrome
Abnormal brainstem morphology, Attention deficit hyperactivity disorder, Increased serum testoste... ORPHA:8
Pediatric-Onset Graves Disease
Polydipsia, Graves disease, Goiter, Puberty and gonadal disorders, Emotional lability, Increased ... ORPHA:525731
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Dehydration ORPHA:230
Meckel Syndrome, Type 10
Occipital encephalocele, Molar tooth sign on MRI, Anencephaly OMIM:614175
Beta-Ketothiolase Deficiency
Dehydration, Edema ORPHA:134
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Dend Syndrome
Dehydration ORPHA:79134
Orofaciodigital Syndrome Xvi
Inability to walk, Molar tooth sign on MRI, Ataxia OMIM:617563
Perry Syndrome
Short stepped shuffling gait, Akinesia OMIM:168605
Cholera
Dehydration, Miscarriage ORPHA:173
Manganese Poisoning
Akinesia, Gait disturbance ORPHA:306682
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Progressive... OMIM:610042
Neurodegeneration With Brain Iron Accumulation 5
Akinesia OMIM:300894
Joubert Syndrome 38
Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth hormone stimulat... OMIM:619476
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Postencephalitic Parkinsonism
Akinesia, Paresthesia ORPHA:97349
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Encephalocele, Self-mutilation, Abnormal pituitary gland morphology ORPHA:314621
Classic Progressive Supranuclear Palsy Syndrome
Akinesia, Gait imbalance, Falls ORPHA:240071
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit... ORPHA:99819
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Hydrops fetalis, Death in childhood, Dehydration OMIM:557000
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormality of the adrenal g... ORPHA:68
Japanese Encephalitis
Abnormal midbrain morphology, Abnormal substantia nigra morphology, Abnormal pons morphology, Ano... ORPHA:79139
3-Hydroxy-3-Methylglutaric Aciduria
Dehydration, Edema ORPHA:20
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Citrullinemia Type Ii
Memory impairment, Confusion, Delayed menarche, Abnormal eating behavior, Irritability, Aggressiv... ORPHA:247585
Coach Syndrome 1
Occipital encephalocele, Encephalocele, Molar tooth sign on MRI, Ataxia OMIM:216360
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperactivit... ORPHA:424
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology, Gait ataxia, Dysmetria, Hypothyroidism, Gait disturbance, Ataxia, ... ORPHA:93256
Methylmalonic Aciduria, Cbla Type
Dehydration OMIM:251100
Renal Hypoplasia
Dehydration ORPHA:93101
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Short attention span, Emotional lability, Dysmetria, Gait ataxia, Hyperacti... OMIM:610217
Joubert Syndrome 37
Molar tooth sign on MRI OMIM:619185
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Hypothyroidism OMIM:619147
Osteootohepatoenteric Syndrome
Dehydration OMIM:619377
Brain-Lung-Thyroid Syndrome
Falls, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism,... ORPHA:209905
Congenital Myopathy 12
Akinesia OMIM:612540
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Oligohydramnios, Dehydration ORPHA:96191
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Joubert Syndrome 5
Occipital encephalocele, Aggressive behavior, Thickened superior cerebellar peduncle, Molar tooth... OMIM:610188
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Abnormal midbrain morphology, Self-injurious behavior, Central hypothyroidi... ORPHA:293987
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polyhydramnios, Nephrogenic diabetes insipidus ORPHA:223
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cells, Dehydration ORPHA:99885
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... ORPHA:534
Netherton Syndrome
Hypernatremic dehydration, Angioedema OMIM:256500
Oligomeganephronia
Dehydration ORPHA:2260
Autosomal Dominant Dopa-Responsive Dystonia
Abnormal substantia nigra morphology, Gait ataxia, Hypothyroidism, Ataxia, Compulsive behaviors, ... ORPHA:98808
Bartter Syndrome Type 4
Hyperaldosteronism, Polyhydramnios, Hyperactive renin-angiotensin system, Dehydration, Increased ... ORPHA:89938
Pearson Syndrome
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Corneal stromal ede... ORPHA:699
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Dehydration ORPHA:411629
Lysosomal Acid Lipase Deficiency
Ascites, Primary adrenal insufficiency, Adrenal calcification, Dehydration ORPHA:275761
Colchicine Poisoning
Dehydration ORPHA:31824
Shigellosis
Dehydration ORPHA:810
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Hyperaldosteronism, Polyhydramnios, Hyperactive renin-angiotensin system, De... OMIM:601678
Alternating Hemiplegia Of Childhood
Dehydration ORPHA:2131
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dehydration ORPHA:79282
Arima Syndrome
Polydipsia, Hypoplasia of the brainstem, Brainstem dysplasia, Molar tooth sign on MRI, Ataxia, Oc... OMIM:243910
Pyruvate Carboxylase Deficiency
Dehydration ORPHA:3008
Neuroleptic Malignant Syndrome
Dehydration ORPHA:94093
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hypoplasia of the brainstem, Anencephaly, Hydrocephalus, Molar tooth sign on MRI, Occipital menin... OMIM:616546
Joubert Syndrome 39
Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem ORPHA:444072
Microsporidiosis
Thyroiditis, Adrenocortical abnormality, Abnormality of the parathyroid gland, Dehydration ORPHA:2552
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Patent ductus arteriosus, Molar tooth sign on MRI, Stillbirth OMIM:616300
Bartter Syndrome, Type 2, Antenatal
Hyperaldosteronism, Polyhydramnios, Hyperactive renin-angiotensin system, Dehydration, Increased ... OMIM:241200
Juvenile Nephropathic Cystinosis
Hypothyroidism, Dehydration ORPHA:411634
Gaucher Disease, Perinatal Lethal
Akinesia OMIM:608013
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Dehydration ORPHA:90038
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Cystinosis, Nephropathic
Male hypogonadism, Primary hypothyroidism, Delayed puberty, Diabetes mellitus, Dehydration OMIM:219800
African Trypanosomiasis
Myelopathy, Somatic sensory dysfunction, Difficulty walking, Akinesia, Paresthesia, Abnormality o... ORPHA:3385
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Akinesia ORPHA:411602
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Emotional lability, Hyperactivity OMIM:620047
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Mental deterioration, Depression, Akinesia, Obsessive-compulsive trait, Motor tics, ... OMIM:234200
Distal Renal Tubular Acidosis
Dehydration ORPHA:18
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elongated superior cerebellar peduncle, Occipital encephalocele, Molar tooth sign on MRI, Meningo... ORPHA:397715
Orofaciodigital Syndrome Type 6
Gait disturbance, Molar tooth sign on MRI, Ataxia ORPHA:2754
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancreatic islet cell adenoma... ORPHA:892
Cerebellofaciodental Syndrome
Aggressive behavior, Hypoplasia of the pons, Hypoplasia of the midbrain OMIM:616202
Severe Generalized Junctional Epidermolysis Bullosa
Dehydration, Edema ORPHA:79404
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:619306
Supranuclear Palsy, Progressive, 2
Akinesia, Gait imbalance, Falls OMIM:609454
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Aggressive behavior, Hyperactivity, Ataxia, Choreoathetosis OMIM:612716
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Cystic Fibrosis
Dehydration OMIM:219700
Dpagt1-Cdg
Inability to walk, Akinesia, Ataxia ORPHA:86309
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Aprosencephaly OMIM:601374
Orofaciodigital Syndrome Vi
Occipital meningocele, Molar tooth sign on MRI OMIM:277170
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Marburg Hemorrhagic Fever
Dehydration ORPHA:99826
Supranuclear Palsy, Progressive, 1
Akinesia, Gait imbalance, Falls OMIM:601104
Proximal Renal Tubular Acidosis
Dehydration ORPHA:47159
Histidinemia
Hyperactivity ORPHA:2157
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Molar tooth sign on MRI OMIM:619479
Meckel Syndrome, Type 1
Occipital encephalocele, Adrenal hypoplasia, Molar tooth sign on MRI, Hydrocephalus, Anencephaly,... OMIM:249000
Wilson Disease
Hypoparathyroidism, Face of the giant panda sign, Dysphagia OMIM:277900
Orofaciodigital Syndrome Xiv
Holoprosencephaly, Occipital encephalocele, Patent ductus arteriosus, Molar tooth sign on MRI OMIM:615948
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Molar tooth sign on MRI ORPHA:434179

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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