banner
Genes Phenotypes Help, News, Blog

Gene: Nr4a2 MGI:1352456

Log in to follow
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
Akinesia, Freezing of gait OMIM:619911

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
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... ORPHA:280397
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Dehydration OMIM:601410
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration, Death in infancy OMIM:251850
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Dehydration, Matern... ORPHA:99886
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Immunodeficiency 8
Hyperactivity OMIM:615401
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Neonatal death OMIM:602199
Chronic Hiccup
Dehydration ORPHA:396
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Difficulty walking, Attention defic... OMIM:619191
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity ORPHA:85288
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Edema OMIM:616069
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Dehydration, Increased circulating 18-hydroxycortisone l... OMIM:610600
Septopreoptic Holoprosencephaly
Precocious puberty, Hypoplasia of the pons, Anterior hypopituitarism, Ethmoidal encephalocele, Dy... ORPHA:280195
Enteric Anendocrinosis
Dehydration, Type I diabetes mellitus ORPHA:83620
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Falls, Unsteady gait, Short stepp... ORPHA:240094
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity OMIM:619970
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Hyperactivity, Aggressive behavior OMIM:604317
Joubert Syndrome 27
Ataxia, Molar tooth sign on MRI OMIM:617120
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Truncal ataxia, Gait disturbance, Difficulty walking, Gait ataxia ORPHA:98764
Glycine Encephalopathy
Impulsivity, Hyperactivity, Aggressive behavior, Irritability OMIM:605899
Joubert Syndrome 33
Ataxia, Molar tooth sign on MRI OMIM:617767
Familial Renal Glucosuria
Dehydration ORPHA:69076
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Aggressive behavior OMIM:309548
Paragangliomas 3
Glomus jugular tumor, Extraadrenal pheochromocytoma, Episodic paroxysmal anxiety, Elevated circul... OMIM:605373
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Hyperactivity, Decreased serum insulin-like gr... ORPHA:85327
Joubert Syndrome 25
Ataxia, Molar tooth sign on MRI OMIM:616781
Paragangliomas 1
Glomus jugular tumor, Extraadrenal pheochromocytoma, Episodic paroxysmal anxiety, Glomus tympanic... OMIM:168000
Fraxe Intellectual Disability
Impulsivity, Hyperactivity, Aggressive behavior ORPHA:100973
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Meckel Syndrome 13
Ataxia, Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Dehydration, Hyperaldosteronism, Increased circulating reni... OMIM:177735
Hyperprolinemia, Type I
Ataxia, Hyperactivity, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Attention deficit hyperactivity disorder, Impaired sensitivity to ... OMIM:188570
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Dehydration, Elevated serum 11-deoxycortisol, Increased ... ORPHA:556030
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Lennox-Gastaut Syndrome
Hyperactivity, Mental deterioration, Falls, Aggressive behavior, Personality disorder ORPHA:2382
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Impulsivity OMIM:617113
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Hyperactivity, Increased circulating... OMIM:275000
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Dehydration, Hyperaldosteronism OMIM:264350
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in childhood, Dehydration, Death in adolescence, Type I diabetes mellitus OMIM:560000
Reticular Dysgenesis
Dehydration, Aplasia/Hypoplasia of the thymus ORPHA:33355
Landau-Kleffner Syndrome
Social and occupational deterioration, Hyperactivity, Impulsivity, Depression, Anxiety, Memory im... ORPHA:98818
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Depression, Gait ataxia, ... ORPHA:248111
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... OMIM:609583
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Bipolar affective disorder, Hyperactivity, Hypothyroidism OMIM:619927
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Dehydration, Increased circulating renin level OMIM:203400
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia ORPHA:98773
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Aggressi... ORPHA:3077
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema ORPHA:103910
Central Diabetes Insipidus
Dehydration, Diabetes insipidus ORPHA:178029
Joubert Syndrome 31
Molar tooth sign on MRI, Truncal ataxia OMIM:617761
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Anxiety, Aggressive behavior OMIM:609425
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity, Aggressive behavior OMIM:300983
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Aggressive behavior OMIM:619470
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Molar tooth sign on MRI OMIM:614120
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior ORPHA:382
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
X-Linked Adrenoleukodystrophy
Adrenal insufficiency, Inappropriate sexual behavior, Hyperactivity, Abnormality of adrenal physi... ORPHA:43
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Memory impairment, Self-biting, N... OMIM:619827
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Shuffling gait, Gait ataxia, Short stepped shuffling gait ORPHA:391411
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria OMIM:618090
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Joubert Syndrome 7
Ataxia, Encephalocele, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem OMIM:611560
Cerebrooculofacioskeletal Syndrome 1
Death in childhood, Dehydration OMIM:214150
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Hydrocephalus, Hydranencephaly OMIM:225790
Diarrhea 1, Secretory Chloride, Congenital
Hyperactive renin-angiotensin system, Polyhydramnios, Dehydration, Hyperaldosteronism OMIM:214700
Familial Cold Urticaria
Dehydration ORPHA:47045
Joubert Syndrome 15
Ataxia, Molar tooth sign on MRI OMIM:614464
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Ataxia, Hyperactivity OMIM:615924
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggressive behavior OMIM:619467
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Joubert Syndrome 28
Ataxia, Molar tooth sign on MRI OMIM:617121
Joubert Syndrome 10
Molar tooth sign on MRI OMIM:300804
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Precocious puberty, Hyperactivity, Aggressive behavior ORPHA:457260
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:271980
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Choreoathetosis, Hyperactivity, Aggressive behavior OMIM:612716
Isovaleric Acidemia
Dehydration OMIM:243500
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Dehydration, Oligohydramnios, Neonatal death OMIM:263200
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI OMIM:614465
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Inappropriate laughter ORPHA:411515
Generalized Pseudohypoaldosteronism Type 1
Dehydration, Abnormal circulating aldosterone, Increased circulating renin level, Glucocortocoid-... ORPHA:171876
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Cystinosis
Nephrogenic diabetes insipidus, Dehydration, Hypothyroidism, Type I diabetes mellitus, Delayed pu... ORPHA:213
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation OMIM:615516
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Adult Krabbe Disease
Broad-based gait, Abnormal pons morphology, Ataxia, Abnormal medulla oblongata morphology, Gait d... ORPHA:206448
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Parkinson Disease 17
Akinesia OMIM:614203
Corticobasal Syndrome
Gait disturbance, Somatic sensory dysfunction, Akinesia ORPHA:454887
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Hyperactivity, Paroxysmal bursts of laughter OMIM:618718
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrogenic diabetes insipidus, Dehydration, Oligohydramnios, Death in infancy OMIM:208085
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI OMIM:617127
Spinocerebellar Ataxia 21
Akinesia, Ataxia, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia OMIM:607454
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration ORPHA:79312
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Coach Syndrome 3
Ataxia, Molar tooth sign on MRI OMIM:619113
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Joubert Syndrome 32
Ataxia, Molar tooth sign on MRI OMIM:617757
Cln5 Disease
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, An... ORPHA:228360
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Coach Syndrome 2
Hydrocephalus, Molar tooth sign on MRI OMIM:619111
Female Restricted Epilepsy With Intellectual Disability
Impulsivity, Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggre... ORPHA:485350
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity, Decreased response to growth hormone stimulation test OMIM:615286
Joubert Syndrome 18
Molar tooth sign on MRI OMIM:614815
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Happy demeanor, Hyperactivity, Unsteady gait OMIM:617865
Vipoma
Elevated calcitonin, Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulating gr... ORPHA:97282
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperinsulinemia, Hyperactivity, Progressive psychomotor deterioration, Cognitive impairm... ORPHA:363400
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death, Edema OMIM:253310
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Joubert Syndrome 17
Ataxia, Molar tooth sign on MRI OMIM:614615
Harlequin Ichthyosis
Dehydration ORPHA:457
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyhydramnios, Lymphedema, Feta... OMIM:620014
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI OMIM:612285
Autosomal Agammaglobulinemia
Dehydration ORPHA:33110
Joubert Syndrome 35
Elongated superior cerebellar peduncle, Ataxia, Molar tooth sign on MRI OMIM:618161
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Ataxia, Thickened superior cerebellar peduncle, Molar too... OMIM:610688
Wolcott-Rallison Syndrome
Dehydration, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Ascites, Central hypot... ORPHA:1667
Rasmussen Subacute Encephalitis
Inability to walk, Hyperactivity, Cognitive impairment, Memory impairment, Attention deficit hype... ORPHA:1929
Joubert Syndrome With Renal Defect
Ataxia, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Gait disturbance, Encephal... ORPHA:220497
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Dehydration, Hyperaldosteronism, Increased circulating reni... OMIM:607364
Secondary Short Bowel Syndrome
Primary hypothyroidism, Dehydration, Central hypothyroidism ORPHA:95427
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Precocious puberty, Hyperactivity, Aggressive behavior OMIM:300958
Lamellar Ichthyosis
Dehydration ORPHA:313
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Impulsivity, Hyperactivity, Gait ataxia, Aggressive behavior ORPHA:500180
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Akinesia OMIM:618822
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Self-injurious behavior, Hyperthyroidism, Depression, Anxiety, Hypothyroidism, Att... ORPHA:449291
Propionic Acidemia
Dehydration OMIM:606054
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Increased serum testosterone level, Decreased circulating a... ORPHA:90794
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior OMIM:300558
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Ataxia, Molar tooth sign on MRI OMIM:608629
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... ORPHA:289548
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait OMIM:619911
Meckel Syndrome, Type 4
Hydrocephalus, Anencephaly, Meningocele, Encephalocele, Molar tooth sign on MRI OMIM:611134
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... ORPHA:168558
Lissencephaly Type Iii And Bone Dysplasia
Akinesia OMIM:601160
Joubert Syndrome With Oculorenal Defect
Ataxia, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Encephalocele, Molar tooth... ORPHA:2318
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Kufor-Rakeb Syndrome
Gait disturbance, Akinesia, Ataxia, Distal sensory impairment OMIM:606693
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Thymoma, Pituitary growth hormone cell adenoma, Intestinal carcinoid, ... ORPHA:652
Joubert Syndrome With Ocular Defect
Ataxia, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Gait disturbance, Encephal... ORPHA:220493
Slc35A2-Cdg
Precocious puberty, Inability to walk, Atrophy/Degeneration affecting the brainstem, Elevated cir... ORPHA:356961
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Molar tooth sign on MRI OMIM:614175
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death OMIM:276822
Joubert Syndrome 30
Molar tooth sign on MRI OMIM:617622
Joubert Syndrome 8
Ataxia, Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Joubert Syndrome 22
Molar tooth sign on MRI OMIM:615665
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration, Diabetes insipidus OMIM:304800
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Akinesia, Ataxia, Dysdiadochokinesis, Shuffling gait, Gait ataxia ORPHA:247234
Netherton Syndrome
Dehydration ORPHA:634
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration, Nephrogenic diabetes insipidus OMIM:125800
Aceruloplasminemia
Akinesia, Ataxia, Limb ataxia, Chorea, Gait ataxia, Diabetes mellitus ORPHA:48818
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Precocious puberty, Hyperactivity, Progressive language deterioration, Self-mutilation, M... ORPHA:163681
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Inability to walk, Hyperactivity, Mental deterioration, Anxiety, Gait disturbance, Motor ... ORPHA:168491
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Ataxia, Hyperactivity, Gait disturbance, Inappropriate laughter OMIM:614104
Gomez-Lopez-Hernandez Syndrome
Ataxia, Self-injurious behavior, Hyperactivity, Decreased response to growth hormone stimulation ... OMIM:601853
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI OMIM:277170
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Hyperactivity, Self-biting, Aggressive behavior, Hypogonadism ORPHA:3306
Autosomal Dominant Cerebellar Ataxia
Akinesia, Progressive cerebellar ataxia, Impaired vibratory sensation, Chorea, Gait disturbance, ... ORPHA:99
Joubert Syndrome 2
Elongated superior cerebellar peduncle, Hydrocephalus, Ataxia, Encephalocele, Thickened superior ... OMIM:608091
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration OMIM:616271
Dopamine Beta-Hydroxylase Deficiency
Dehydration, Hyperinsulinemia ORPHA:230
Orofaciodigital Syndrome Xvi
Ataxia, Inability to walk, Molar tooth sign on MRI OMIM:617563
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity, Aggressive behavior, Progressive language deterioration OMIM:610042
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Cholera
Dehydration, Miscarriage ORPHA:173
Adenylosuccinase Deficiency
Happy demeanor, Inability to walk, Hyperactivity, Self-mutilation, Gait ataxia, Aggressive behavi... OMIM:103050
Infantile Neuroaxonal Dystrophy
Ataxia, Hyperactivity, Impulsivity, Mental deterioration, Gait disturbance, Psychomotor deteriora... ORPHA:35069
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Beta-Ketothiolase Deficiency
Dehydration, Edema ORPHA:134
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Decreased circulating cortisol level, Mental... ORPHA:139396
Pediatric-Onset Graves Disease
Graves disease, Hyperactivity, Increased circulating free T3, Increased circulating T4 concentrat... ORPHA:525731
Methylmalonic Aciduria, Cbla Type
Dehydration OMIM:251100
Dend Syndrome
Dehydration ORPHA:79134
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Small pituitary gland, Ectopic posterior p... OMIM:619476
47,Xyy Syndrome
Increased serum testosterone level, Hyperactivity, Impulsivity, Attention deficit hyperactivity d... ORPHA:8
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Ataxia, Abnormal brainstem MRI signal intensity, Myocardial necrosis, A... ORPHA:68
Manganese Poisoning
Gait disturbance, Akinesia ORPHA:306682
Pearson Marrow-Pancreas Syndrome
Death in childhood, Dehydration, Hydrops fetalis, Type I diabetes mellitus OMIM:557000
Myopathy, Congenital, Compton-North
Akinesia OMIM:612540
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Renal Hypoplasia
Dehydration ORPHA:93101
Coach Syndrome 1
Encephalocele, Ataxia, Occipital encephalocele, Molar tooth sign on MRI OMIM:216360
Perry Syndrome
Akinesia, Short stepped shuffling gait OMIM:168605
Postencephalitic Parkinsonism
Paresthesia, Akinesia ORPHA:97349
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Akinesia, Falls ORPHA:240071
Intellectual Developmental Disorder, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity OMIM:617600
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Joubert Syndrome 37
Molar tooth sign on MRI OMIM:619185
3-Hydroxy-3-Methylglutaric Aciduria
Dehydration, Edema ORPHA:20
Hyperthyroidism, Nonautoimmune
Goiter, Hyperactivity, Thyroid hyperplasia, Hyperthyroidism OMIM:609152
Osteootohepatoenteric Syndrome
Dehydration OMIM:619377
Netherton Syndrome
Angioedema, Hypernatremic dehydration OMIM:256500
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Dehydration, Oligohydramnios ORPHA:96191
X-Linked Creatine Transporter Deficiency
Self-mutilation, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Joubert Syndrome 1
Elongated superior cerebellar peduncle, Ataxia, Molar tooth sign on MRI, Brainstem dysplasia, Occ... OMIM:213300
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypothyroidism, Akinesia OMIM:619147
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Encephalocele, Abnormal midbrain morphology ORPHA:314621
Japanese Encephalitis
Abnormal pons morphology, Inappropriate antidiuretic hormone secretion, Abnormal substantia nigra... ORPHA:79139
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Polyhydramnios, Hypernatremic dehydration ORPHA:223
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Bradykinesia, Dysmetria, Abnormal brainstem morphology, Hypothyroidism, Gait disturbance,... ORPHA:93256
Oligomeganephronia
Dehydration ORPHA:2260
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Bartter Syndrome Type 4
Hyperactive renin-angiotensin system, Dehydration, Increased circulating renin level, Polyhydramn... ORPHA:89938
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Pearson Syndrome
Hypoparathyroidism, Adrenal insufficiency, Decreased response to growth hormone stimulation test,... ORPHA:699
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cells, Dehydration ORPHA:99885
Von Hippel-Lindau Disease
Anxiety, Paraganglioma, Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancr... ORPHA:892
Oculocerebrorenal Syndrome Of Lowe
Joint swelling, Abnormal calcium-phosphate regulating hormone level, Dehydration, Death in infanc... ORPHA:534
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Dehydration, Increased circulating renin level, Polyhydramn... OMIM:601678
Colchicine Poisoning
Dehydration ORPHA:31824
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, Gait ataxia, Emo... OMIM:610217
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dehydration, Hydrops fetalis ORPHA:79282
Infantile Nephropathic Cystinosis
Dehydration, Abnormality of thyroid physiology ORPHA:411629
Arima Syndrome
Occipital meningocele, Ataxia, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the br... OMIM:243910
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Primary adrenal insufficiency, Dehydration, Ascites ORPHA:275761
Shigellosis
Dehydration ORPHA:810
Alternating Hemiplegia Of Childhood
Dehydration ORPHA:2131
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Thyroid h... ORPHA:99819
Pyruvate Carboxylase Deficiency
Dehydration ORPHA:3008
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Thyroid h... ORPHA:424
Neuroleptic Malignant Syndrome
Dehydration ORPHA:94093
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Adrenocorticotropic hormone deficiency, Polydipsia, Decreased response to growth hormone stimulat... ORPHA:293987
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Dehydration, Increased circulating renin level, Polyhydramn... OMIM:241200
Microsporidiosis
Dehydration, Abnormality of the parathyroid gland, Adrenocortical abnormality, Thyroiditis ORPHA:2552
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Molar tooth sign on MRI OMIM:616546
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Abnormal midbrain morphology, Hypoplasia of the brainstem ORPHA:444072
Juvenile Nephropathic Cystinosis
Hypothyroidism, Dehydration ORPHA:411634
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Dehydration ORPHA:90038
Joubert Syndrome 39
Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
African Trypanosomiasis
Akinesia, Abnormality of the endocrine system, Abnormal prolactin level, Abnormality of renin-ang... ORPHA:3385
Cystinosis, Nephropathic
Dehydration, Delayed puberty, Male hypogonadism, Primary hypothyroidism, Diabetes mellitus OMIM:219800
Gaucher Disease, Perinatal Lethal
Akinesia OMIM:608013
Distal Renal Tubular Acidosis
Dehydration ORPHA:18
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Encephalocele, Molar tooth sign on MRI OMIM:616300
Joubert Syndrome 5
Thickened superior cerebellar peduncle, Ataxia, Occipital encephalocele, Molar tooth sign on MRI OMIM:610188
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Akinesia ORPHA:411602
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Occipital encephalocele, Meningo... ORPHA:397715
Orofaciodigital Syndrome Type 6
Gait disturbance, Ataxia, Molar tooth sign on MRI ORPHA:2754
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:619306
Severe Generalized Junctional Epidermolysis Bullosa
Dehydration, Edema ORPHA:79404
Argininemia
Spastic gait, Hyperactivity, Irritability OMIM:207800
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Akinesia, Ataxia, Choreoathetosis OMIM:234200
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Supranuclear Palsy, Progressive, 2
Gait imbalance, Akinesia, Falls OMIM:609454
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Absent mesencephalon OMIM:601374
Marburg Hemorrhagic Fever
Dehydration ORPHA:99826
Proximal Renal Tubular Acidosis
Dehydration ORPHA:47159
Tuberous Sclerosis Complex
Pituitary adenoma, Hyperactivity, Self-injurious behavior, Parathyroid adenoma, Impulsivity, Carc... ORPHA:805
Wilson Disease
Hypoparathyroidism, Face of the giant panda sign, Dysphagia OMIM:277900
Cystic Fibrosis
Dehydration OMIM:219700
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Hypoplasia of the midbrain OMIM:616202
Meckel Syndrome, Type 1
Hydrocephalus, Anencephaly, Adrenal hypoplasia, Patent ductus arteriosus, Occipital encephalocele... OMIM:249000
Supranuclear Palsy, Progressive, 1
Gait imbalance, Akinesia, Falls OMIM:601104
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Small pituitary gland OMIM:619479
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Pseudohypoparathyroidism, Decreased response to growth hormone stimulation test, E... ORPHA:280651
Choreoacanthocytosis
Bradyphrenia, Loss of ambulation, Apathy, Hyperactivity, Self-injurious behavior, Irritability, H... ORPHA:2388
Dpagt1-Cdg
Akinesia, Ataxia, Inability to walk ORPHA:86309
Orofaciodigital Syndrome Xiv
Molar tooth sign on MRI, Patent ductus arteriosus, Occipital encephalocele, Holoprosencephaly OMIM:615948
Histidinemia
Hyperactivity ORPHA:2157
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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter