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Gene: Nr4a2 MGI:1352456

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

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 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
Freezing of gait, Akinesia OMIM:619911
Autosomal Dominant Dopa-Responsive Dystonia
Abnormal substantia nigra morphology, Ataxia, Gait ataxia, Bradykinesia, Compulsive behaviors, Hy... 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
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder 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
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, De... ORPHA:99886
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Chronic Hiccup
Dehydration ORPHA:396
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Increased serum serotonin ORPHA:85288
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Impulsivity, Hypoplasia of the pons, Precocious puberty, Dysphagia,... ORPHA:280195
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Dehy... OMIM:610600
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Joubert Syndrome 20
Molar tooth sign on MRI, Inability to walk, Self-mutilation, Aggressive behavior OMIM:614970
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Enteric Anendocrinosis
Type I diabetes mellitus, Dehydration ORPHA:83620
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level, Dehydration OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level, Dehydration OMIM:620125
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia ORPHA:98764
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Joubert Syndrome 25
Molar tooth sign on MRI, Ataxia OMIM:616781
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration OMIM:616069
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Ataxia OMIM:617562
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, I... OMIM:177735
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... OMIM:619927
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Dehydration OMIM:143880
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Dehydration OMIM:264350
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Ravine Syndrome
Anorexia, Abnormal brainstem morphology, Ataxia, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Early-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Dehydration, Elevated serum 11-deoxycortisol, Increase... ORPHA:556030
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, M... ORPHA:98818
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Central Diabetes Insipidus
Diabetes insipidus, Dehydration ORPHA:178029
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Dehydration ORPHA:33355
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Death in adolescence, Dehydration, Death in childhood OMIM:560000
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... ORPHA:248111
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia, Thickened superior cereb... OMIM:609583
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... OMIM:261600
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level, Dehydration OMIM:203400
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Joubert Syndrome 31
Molar tooth sign on MRI, Truncal ataxia OMIM:617761
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp... ORPHA:240094
Joubert Syndrome 15
Molar tooth sign on MRI, Ataxia, Exencephaly OMIM:614464
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Joubert Syndrome 33
Molar tooth sign on MRI, Ataxia OMIM:617767
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Anencephaly OMIM:614120
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Joubert Syndrome 27
Molar tooth sign on MRI, Ataxia, Gait ataxia OMIM:617120
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... ORPHA:85327
Joubert Syndrome 7
Encephalocele, Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI OMIM:611560
Cerebrooculofacioskeletal Syndrome 1
Dehydration, Death in childhood OMIM:214150
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Familial Renal Glucosuria
Abnormal circulating insulin concentration, Dehydration ORPHA:69076
Familial Cold Urticaria
Dehydration ORPHA:47045
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Dementia, Adrenal insuffici... ORPHA:43
Joubert Syndrome 28
Molar tooth sign on MRI, Ataxia OMIM:617121
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors OMIM:619467
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Joubert Syndrome 10
Molar tooth sign on MRI OMIM:300804
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Isovaleric Acidemia
Dehydration OMIM:243500
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior ORPHA:382
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased ... OMIM:214700
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Joubert Syndrome 16
Molar tooth sign on MRI, Encephalocele OMIM:614465
Generalized Pseudohypoaldosteronism Type 1
Abnormal circulating aldosterone, Glucocortocoid-insensitive primary hyperaldosteronism, Increase... ORPHA:171876
Parkinson Disease 17
Akinesia OMIM:614203
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia OMIM:607454
Joubert Syndrome 6
Ataxia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar pedun... OMIM:610688
Corticobasal Syndrome
Somatic sensory dysfunction, Gait disturbance, Akinesia ORPHA:454887
Cystinosis
Nephrogenic diabetes insipidus, Dehydration, Delayed puberty, Type I diabetes mellitus, Hypothyro... ORPHA:213
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration ORPHA:79312
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Short attention span, Decreased serum insulin-like growth factor 1, Elevated circu... OMIM:608747
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hyp... ORPHA:449291
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Coach Syndrome 3
Molar tooth sign on MRI, Ataxia OMIM:619113
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus OMIM:619111
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrogenic diabetes insipidus, Death in infancy, Dehydration, Oligohydramnios OMIM:208085
Joubert Syndrome 32
Molar tooth sign on MRI, Ataxia OMIM:617757
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Carnitine Deficiency, Systemic Primary
Dehydration OMIM:212140
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin... OMIM:609152
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI OMIM:617127
Adult Krabbe Disease
Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Ab... ORPHA:206448
Lethal Congenital Contracture Syndrome 1
Neonatal death, Paucity of anterior horn motor neurons, Edema OMIM:253310
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Neona... OMIM:620014
Joubert Syndrome 9
Molar tooth sign on MRI, Encephalocele OMIM:612285
Slc35A2-Cdg
Abnormal midbrain morphology, Precocious puberty, Inability to walk, Elevated circulating thyroid... ORPHA:356961
Harlequin Ichthyosis
Dehydration ORPHA:457
Autosomal Agammaglobulinemia
Dehydration ORPHA:33110
Congenital Myopathy 9A
Akinesia OMIM:618822
Propionic Acidemia
Dehydration OMIM:606054
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia OMIM:618161
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Dehydration, Central hypothyroidism, Ascites, Hypot... ORPHA:1667
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Vipoma
Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating growth hormone concentratio... ORPHA:97282
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Joubert Syndrome With Renal Defect
Encephalocele, Ataxia, Hydrocephalus, Gait disturbance, Molar tooth sign on MRI, Abnormality of t... ORPHA:220497
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia OMIM:619911
Secondary Short Bowel Syndrome
Dehydration, Primary hypothyroidism, Central hypothyroidism ORPHA:95427
Lamellar Ichthyosis
Dehydration ORPHA:313
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Akinesia OMIM:225790
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Molar tooth sign on MRI OMIM:611134
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Mental deterioration, Low frustra... ORPHA:163681
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Kufor-Rakeb Syndrome
Akinesia, Ataxia, Gait disturbance, Distal sensory impairment OMIM:606693
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... ORPHA:90794
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... ORPHA:289548
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia OMIM:608629
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Dehydration, Oligohydramnios OMIM:263200
Joubert Syndrome 18
Molar tooth sign on MRI, Occipital encephalocele OMIM:614815
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... ORPHA:168558
Joubert Syndrome 17
Molar tooth sign on MRI, Ataxia OMIM:614615
Joubert Syndrome With Oculorenal Defect
Encephalocele, Ataxia, Hydrocephalus, Molar tooth sign on MRI, Abnormality of the hypothalamus-pi... ORPHA:2318
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait ORPHA:247234
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Joubert Syndrome With Ocular Defect
Encephalocele, Ataxia, Hydrocephalus, Gait disturbance, Molar tooth sign on MRI, Abnormality of t... ORPHA:220493
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Dehy... OMIM:607364
Joubert Syndrome 14
Encephalocele, Ataxia, Hydrocephalus, Meningocele, Hypoplasia of the brainstem, Molar tooth sign ... OMIM:614424
Joubert Syndrome 30
Molar tooth sign on MRI OMIM:617622
Joubert Syndrome 22
Molar tooth sign on MRI OMIM:615665
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Decreased circulating cortisol level, Ataxia, Confusion, Ina... ORPHA:139396
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele, Ataxia OMIM:612291
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Diabetes insipidus, Hypertonic dehydration OMIM:304800
Aceruloplasminemia
Diabetes mellitus, Ataxia, Akinesia, Chorea, Limb ataxia, Gait ataxia ORPHA:48818
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Hypertonic dehydration OMIM:125800
Netherton Syndrome
Dehydration ORPHA:634
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis OMIM:276822
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration OMIM:615453
Joubert Syndrome 1
Hyperactivity, Ataxia, Brainstem dysplasia, Aggressive behavior, Occipital myelomeningocele, Hypo... OMIM:213300
Joubert Syndrome 2
Encephalocele, Ataxia, Brainstem dysplasia, Hydrocephalus, Hypoplasia of the brainstem, Molar too... OMIM:608091
47,Xyy Syndrome
Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Hydrocephalus, Abnormal bra... ORPHA:8
Pediatric-Onset Graves Disease
Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu... ORPHA:525731
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Dehydration ORPHA:230
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration OMIM:616271
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Restlessness, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbra... ORPHA:68
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Occipital encephalocele, Anencephaly OMIM:614175
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Inability to walk, Ataxia OMIM:617563
Perry Syndrome
Short stepped shuffling gait, Akinesia OMIM:168605
Beta-Ketothiolase Deficiency
Edema, Dehydration ORPHA:134
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Cholera
Miscarriage, Dehydration ORPHA:173
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Dend Syndrome
Dehydration ORPHA:79134
Manganese Poisoning
Gait disturbance, Akinesia ORPHA:306682
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... OMIM:619476
Neurodegeneration With Brain Iron Accumulation 5
Akinesia OMIM:300894
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Duplication Of The Pituitary Gland
Encephalocele, Self-mutilation, Abnormal pituitary gland morphology, Abnormal midbrain morphology ORPHA:314621
Classic Progressive Supranuclear Palsy Syndrome
Falls, Gait imbalance, Akinesia ORPHA:240071
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Postencephalitic Parkinsonism
Paresthesia, Akinesia ORPHA:97349
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Hydrops fetalis, Dehydration, Death in childhood OMIM:557000
Citrullinemia Type Ii
Restlessness, Hyperactivity, Confusion, Abnormal eating behavior, Aggressive behavior, Mania, Irr... ORPHA:247585
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Anorexia, Choreoathetosis, Ab... ORPHA:79139
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys... OMIM:610217
Coach Syndrome 1
Molar tooth sign on MRI, Occipital encephalocele, Encephalocele, Ataxia OMIM:216360
3-Hydroxy-3-Methylglutaric Aciduria
Edema, Dehydration ORPHA:20
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Abnormal brainstem morphology, Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Co... ORPHA:93256
Renal Hypoplasia
Dehydration ORPHA:93101
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Joubert Syndrome 37
Molar tooth sign on MRI OMIM:619185
Methylmalonic Aciduria, Cbla Type
Dehydration OMIM:251100
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypothyroidism, Akinesia OMIM:619147
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Ataxia, Short attent... ORPHA:209905
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:424
Congenital Myopathy 12
Akinesia OMIM:612540
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Osteootohepatoenteric Syndrome
Dehydration OMIM:619377
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Dehydration, Oligohydramnios ORPHA:96191
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hypernatremic dehydration, Polyhydramnios ORPHA:223
Joubert Syndrome 5
Occipital encephalocele, Ataxia, Aggressive behavior, Molar tooth sign on MRI, Thickened superior... OMIM:610188
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Hyperparathyroidism, Dehydration, Abnormal circulating calcium-phosphate regula... ORPHA:534
Autosomal Dominant Dopa-Responsive Dystonia
Abnormal substantia nigra morphology, Ataxia, Gait ataxia, Bradykinesia, Compulsive behaviors, Hy... ORPHA:98808
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Central diab... ORPHA:293987
Oligomeganephronia
Dehydration ORPHA:2260
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Decreased response to growth hormone stimulation test, Hyd... ORPHA:699
Bartter Syndrome Type 4
Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased ... ORPHA:89938
Netherton Syndrome
Hypernatremic dehydration, Angioedema OMIM:256500
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Dehydration ORPHA:411629
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cells, Dehydration ORPHA:99885
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyperaldo... OMIM:601678
Colchicine Poisoning
Dehydration ORPHA:31824
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dehydration ORPHA:79282
Lysosomal Acid Lipase Deficiency
Ascites, Primary adrenal insufficiency, Adrenal calcification, Dehydration ORPHA:275761
Shigellosis
Dehydration ORPHA:810
Alternating Hemiplegia Of Childhood
Dehydration ORPHA:2131
Arima Syndrome
Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Occipital meni... OMIM:243910
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar tooth sign on MRI, Occipital menin... OMIM:616546
Pyruvate Carboxylase Deficiency
Dehydration ORPHA:3008
Neuroleptic Malignant Syndrome
Dehydration ORPHA:94093
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele OMIM:619562
Microsporidiosis
Abnormality of the parathyroid gland, Adrenocortical abnormality, Thyroiditis, Dehydration ORPHA:2552
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased ... OMIM:241200
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology ORPHA:444072
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Molar tooth sign on MRI, Encephalocele, Stillbirth, Patent ductus arteriosus OMIM:616300
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Juvenile Nephropathic Cystinosis
Hypothyroidism, Dehydration ORPHA:411634
Gaucher Disease, Perinatal Lethal
Akinesia OMIM:608013
Cystinosis, Nephropathic
Diabetes mellitus, Dehydration, Primary hypothyroidism, Delayed puberty, Male hypogonadism OMIM:219800
African Trypanosomiasis
Somatic sensory dysfunction, Akinesia, Abnormality of the endocrine system, Myelopathy, Impaired ... ORPHA:3385
Argininemia
Irritability, Hyperactivity, Spastic gait, Anorexia OMIM:207800
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb... OMIM:234200
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Dehydration ORPHA:90038
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Akinesia ORPHA:411602
Distal Renal Tubular Acidosis
Dehydration ORPHA:18
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Molar tooth sign on MRI, Occipital encephalocele, Elongated superior cerebellar peduncle, Meningo... ORPHA:397715
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Ataxia, Gait disturbance ORPHA:2754
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Hypoplasia of the midbrain, Aggressive behavior OMIM:616202
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:619306
Severe Generalized Junctional Epidermolysis Bullosa
Edema, Dehydration ORPHA:79404
Supranuclear Palsy, Progressive, 2
Falls, Gait imbalance, Akinesia OMIM:609454
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Aprosencephaly OMIM:601374
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Occipital meningocele OMIM:277170
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Cystic Fibrosis
Dehydration OMIM:219700
Marburg Hemorrhagic Fever
Dehydration ORPHA:99826
Supranuclear Palsy, Progressive, 1
Falls, Gait imbalance, Akinesia OMIM:601104
Wilson Disease
Hypoparathyroidism, Dysphagia, Face of the giant panda sign OMIM:277900
Proximal Renal Tubular Acidosis
Dehydration ORPHA:47159
Dpagt1-Cdg
Inability to walk, Ataxia, Akinesia ORPHA:86309
Histidinemia
Hyperactivity ORPHA:2157
Meckel Syndrome, Type 1
Occipital encephalocele, Adrenal hypoplasia, Hydrocephalus, Patent ductus arteriosus, Anencephaly... OMIM:249000
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Small pituitary gland OMIM:619479
Orofaciodigital Syndrome Xiv
Molar tooth sign on MRI, Occipital encephalocele, Patent ductus arteriosus, Holoprosencephaly OMIM:615948
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI, Patent ductus arteriosus 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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