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Gene: Hnf4g MGI:1353604

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Gene Summary

Name:
hepatocyte nuclear factor 4, gamma
Synonyms:
NR2A2

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
small kidney Hnf4gem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Hnf4gem1(IMPC)Mbp HOM Early adult 0.00
abnormal auditory brainstem response Hnf4gem1(IMPC)Mbp HOM   Early adult 5.64×10-05

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

100 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Human diseases caused by Hnf4g mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Hnf4g by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Perry Syndrome
Hypoventilation, Central hypoventilation, Akinesia, Respiratory insufficiency, Weight loss, Depre... OMIM:168605
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty... ORPHA:98764
Manganese Poisoning
Akinesia, Aggressive behavior, Hypersexuality, Depression, Irritability, Gait disturbance, Inappr... ORPHA:306682
Hereditary Central Diabetes Insipidus
Irritability, Polydipsia, Weight loss ORPHA:30925
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Obesity Due To Sim1 Deficiency
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Increased resting energy expenditure ORPHA:369873
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Impaired social interactions, Aggressive behavior ORPHA:329249
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Obesity, Aggressive behavior OMIM:620270
Central Diabetes Insipidus
Anorexia, Depression, Weight loss, Polydipsia, Failure to thrive ORPHA:178029
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Weight loss, Depression, Irrit... ORPHA:399
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi... ORPHA:33543
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:3077
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Emotional lability, Obesity OMIM:309585
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Falls, Gait imbalance, Loss o... ORPHA:240094
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Tall stature OMIM:618406
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Intellectual Developmental Disorder, Autosomal Recessive 46
Ataxia, Large for gestational age, Aggressive behavior, Self-injurious behavior, Agitation OMIM:616116
Obesity And Hypopigmentation
Overgrowth, Polyphagia, Obesity OMIM:620195
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Intellectual Developmental Disorder, X-Linked 108
Overweight, Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder OMIM:301024
Leptin Receptor Deficiency
Abnormal eating behavior, Aggressive behavior, Obesity, Emotional lability, Polyphagia OMIM:614963
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71529
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Congenital Myopathy 9A
Obesity, Akinesia OMIM:618822
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... OMIM:607454
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Nephronophthisis-Like Nephropathy 2
Polydipsia, Bronchiectasis, Cough OMIM:619468
Adiposis Dolorosa
Obesity, Depression OMIM:103200
Postencephalitic Parkinsonism
Akinesia, Abnormal respiratory system physiology, Dysphagia, Depression, Cough, Abnormal aggressi... ORPHA:97349
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Pulmonary arterial hypertension, Bulimia, Obesity OMIM:614651
Leptin Deficiency Or Dysfunction
Recurrent pneumonia, Polyphagia, Obesity OMIM:614962
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Hereditary Late-Onset Parkinson Disease
Impulsivity, Akinesia, Weight loss, Depression, Agitation, Shuffling gait, Low frustration tolera... ORPHA:411602
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Intellectual Developmental Disorder With Autism And Macrocephaly
Overweight, Recurrent hand flapping, Pica, Tall stature OMIM:615032
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Gait imbalance, In... ORPHA:411511
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71526
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Irritability, Polydipsia, Failure to thrive OMIM:125800
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Irritability, Polydipsia, Failure to thrive OMIM:304800
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Attention deficit hyperactivity disorder, Gait disturbance, Increased body weight, Impulsivity ORPHA:589905
6Q16 Microdeletion Syndrome
Broad-based gait, Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Kufor-Rakeb Syndrome
Ataxia, Akinesia, Aggressive behavior, Gait disturbance, Dysphagia OMIM:606693
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
14Q11.2 Microduplication Syndrome
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Classic Progressive Supranuclear Palsy Syndrome
Impulsivity, Akinesia, Neuromuscular dysphagia, Falls, Gait imbalance ORPHA:240071
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Aggressive behavior OMIM:300894
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Ataxia, Apnea, Obesity, Choreoathetosis, Shuffling gait, Bruxism, Emotional labilit... OMIM:300055
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Impaired social interactions,... OMIM:612469
Pediatric-Onset Graves Disease
Hyperactivity, Neonatal asphyxia, Irritability, Emotional lability, Polydipsia, Failure to thrive... ORPHA:525731
Brain-Lung-Thyroid Syndrome
Respiratory distress, Hyperactivity, Neonatal respiratory distress, Ataxia, Abnormal eating behav... ORPHA:209905
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia ORPHA:247234
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Akinesia OMIM:619334
Hepatic Veno-Occlusive Disease
Respiratory failure, Increased body weight ORPHA:890
Marchiafava-Bignami Disease
Ataxia, Aggressive behavior, Gait ataxia, Depression, Addictive alcohol use, Gait disturbance, Ab... ORPHA:221074
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Whipple Disease
Ataxia, Cachexia, Anorexia, Respiratory insufficiency, Depression, Cough, Polydipsia ORPHA:3452
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Intermittent hyperventilation, Aggressive behavior, Obesity, Low frustrati... ORPHA:163681
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Gai... ORPHA:98794
East Syndrome
Salt craving, Ataxia, Inability to walk, Difficulty walking, Polydipsia ORPHA:199343
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Depression, Gait disturbance, Abnormal repetitive mannerisms, Self-mutilation ORPHA:457240
Myofibrillar Myopathy 11
Overweight, Reduced forced vital capacity, Dysphagia OMIM:619178
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Akinesia OMIM:607598
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Parkinson Disease 17
Akinesia OMIM:614203
Cystinosis
Abnormal repetitive mannerisms, Polydipsia, Failure to thrive, Gait disturbance ORPHA:213
Wilson Disease
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Depression, Difficulty w... ORPHA:905
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Broad-based gait, Increased body weight OMIM:614450
Congenital Myopathy 12
Respiratory insufficiency due to muscle weakness, Small for gestational age, Akinesia OMIM:612540
Familial Cold Urticaria
Polydipsia ORPHA:47045
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Increased body weight ORPHA:276608
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia OMIM:619911
Luscan-Lumish Syndrome
Shyness, Aggressive behavior, Obesity, Overgrowth, Polyphagia OMIM:616831
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Childhood Absence Epilepsy
Depression, Punding, Attention deficit hyperactivity disorder, Abnormal social behavior, Hyperven... ORPHA:64280
Smith-Magenis Syndrome
Hyperactivity, Self hugging, Increased body weight, Head-banging, Onychotillomania, Abnormal repe... OMIM:182290
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... ORPHA:178320
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Failure to thrive, Akinesia, Truncal ataxia OMIM:618249
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Familial Hyperaldosteronism Type I
Polydipsia, Epistaxis ORPHA:403
Bardet-Biedl Syndrome 17
Polydipsia, Obesity OMIM:615994
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Gait disturbance, Dysp... OMIM:234200
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Akinesia, Dysphagia, Decreased body weight OMIM:608013
Corticobasal Syndrome
Gait disturbance, Akinesia ORPHA:454887
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Polydipsia, Epistaxis, Pulmonary arterial hypertension ORPHA:369929
Supranuclear Palsy, Progressive, 2
Akinesia, Irritability, Falls, Gait imbalance, Dysphagia OMIM:609454
Fetal Akinesia Deformation Sequence
Respiratory insufficiency, Akinesia ORPHA:994
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use, Difficulty walking ORPHA:399180
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder OMIM:274300
Teratoma, Pineal
Polydipsia OMIM:273120
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Failure to thrive, Small for gestational age, Akinesia OMIM:619147
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Central hypoventilation, Aggressive behavior, Asthma, Obesity, Cardiorespiratory... ORPHA:293987
Obesity-Hypoventilation Syndrome
Hypoventilation, Obesity OMIM:257500
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Ochoa Syndrome
Polydipsia ORPHA:2704
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Shyness, Aggressive behavior, Obesity, Self-injurious behavior, Self-mu... ORPHA:293948
Hyperparathyroidism, Neonatal Severe
Dyspnea, Polydipsia, Failure to thrive, Tachypnea OMIM:239200
Nephrogenic Diabetes Insipidus
Polydipsia, Failure to thrive, Anorexia ORPHA:223
Familial Hyperaldosteronism Type Iii
Polydipsia, Epistaxis ORPHA:251274
Septo-Optic Dysplasia Spectrum
Polydipsia, Obesity ORPHA:3157
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight, Depression OMIM:615954
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Supranuclear Palsy, Progressive, 1
Akinesia, Irritability, Falls, Gait imbalance, Dysphagia OMIM:601104
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... ORPHA:99027
Obesity Due To Leptin Receptor Gene Deficiency
Emotional lability, Polyphagia, Obesity ORPHA:179494
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Urinary incontinence, Decreased nerv... ORPHA:101085
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Apparent Mineralocorticoid Excess
Polydipsia, Failure to thrive ORPHA:320
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence ORPHA:206448
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Dysdiadochokinesis, Salt craving, Ataxia OMIM:612780
Erdheim-Chester Disease
Ataxia, Dyspnea, Weight loss, Pleural effusion, Cough, Polydipsia ORPHA:35687
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Epistaxis ORPHA:231580
Dpagt1-Cdg
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, Stereotypical body rockin... ORPHA:86309
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Increased body weight, Depression OMIM:615830
Aceruloplasminemia
Akinesia, Ataxia, Limb ataxia, Gait ataxia ORPHA:48818
Gitelman Syndrome
Failure to thrive, Polydipsia, Salt craving, Ataxia OMIM:263800
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Toxic Epidermal Necrolysis
Respiratory distress, Dysphagia, Weight loss, Restrictive ventilatory defect, Cough, Polydipsia ORPHA:537
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Overweight, Inability to walk, Obesity, Gait disturbance, Dysphagia, Emotional lability ORPHA:2822
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Optic atrophy, Macrotia, A... ORPHA:90321
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Acute Promyelocytic Leukemia
Epistaxis, Anorexia, Productive cough, Weight loss, Addictive alcohol use, Exertional dyspnea ORPHA:520
Insulinoma
Polyphagia, Increased body weight ORPHA:97279
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Renal Hypoplasia
Polydipsia, Small for gestational age ORPHA:93101
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Nephronophthisis 4
Polydipsia OMIM:606966
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Obesity OMIM:609734
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Agitation, Increased body weight, Large for gestational age ORPHA:263455
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Wolfram Syndrome
Central apnea, Polydipsia, Ataxia, Respiratory insufficiency ORPHA:3463
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Small for gestational age, Decreased resting energy expenditure, Inability to walk, Athetosis, Im... ORPHA:404454
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Nephronophthisis 3
Polydipsia OMIM:604387
Nephronophthisis 1
Polydipsia OMIM:256100
Arthrogryposis Multiplex Congenita 5
Restrictive ventilatory defect, Neonatal respiratory distress, Akinesia OMIM:618947
Joubert Syndrome 8
Ataxia, Obesity, Hyperventilation OMIM:612291
Methanol Poisoning
Addictive alcohol use ORPHA:31825
Herpes Simplex Virus Encephalitis
Respiratory failure requiring assisted ventilation, Addictive alcohol use ORPHA:1930
Nephronophthisis 11
Polydipsia OMIM:613550
Oligomeganephronia
Polydipsia, Small for gestational age ORPHA:2260
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Increased body weight, Abdominal obesity, Abnormal temper tantrums, Compulsive behav... ORPHA:398069
Sotos Syndrome
Aggressive behavior, Increased body weight, Overgrowth, Attention deficit hyperactivity disorder,... OMIM:117550
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evoked potentials,... OMIM:133540
Cockayne Syndrome A
Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evoked potentials,... OMIM:216400
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Ethylene Glycol Poisoning
Ataxia, Tachypnea, Episodic respiratory distress, Euphoria, Addictive alcohol use, Abnormal patte... ORPHA:31826
Senior-Boichis Syndrome
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:84081
Arima Syndrome
Dyspnea, Polydipsia, Tachypnea, Ataxia OMIM:243910
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Depression, Abdominal obesity, Emotional lability, Mania ORPHA:189427
Hypomagnesemia 3, Renal
Polydipsia, Failure to thrive OMIM:248250
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Isolated Osteopoikilosis
Addictive alcohol use ORPHA:166119
Panhypophysitis
Polydipsia ORPHA:95513
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Helix Syndrome
Polydipsia OMIM:617671
Distal Renal Tubular Acidosis
Respiratory insufficiency due to muscle weakness, Polydipsia, Failure to thrive ORPHA:18
Infantile Nephropathic Cystinosis
Polydipsia, Failure to thrive ORPHA:411629
Adrenocortical Carcinoma
Irritability, Increased body weight, Weight loss ORPHA:1501
African Trypanosomiasis
Akinesia, Aggressive behavior, Weight loss, Choreoathetosis, Irritability, Gait disturbance, Diff... ORPHA:3385
Parathyroid Carcinoma
Polydipsia, Weight loss, Dysphagia ORPHA:143
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Rabson-Mendenhall Syndrome
Polydipsia ORPHA:769
Gitelman Syndrome
Respiratory distress, Failure to thrive, Polydipsia, Salt craving ORPHA:358
Cystinosis, Nephropathic
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Polydipsia OMIM:219800
Juvenile Nephropathic Cystinosis
Polydipsia, Failure to thrive ORPHA:411634
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia, Failure to thrive OMIM:602522
Acquired Aneurysmal Subarachnoid Hemorrhage
Addictive alcohol use ORPHA:90065
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Dysphagia ORPHA:99880
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Addictive alcohol use ORPHA:57777
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Respiratory failure, Polydipsia ORPHA:731
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia ORPHA:93111
Proximal Renal Tubular Acidosis
Polydipsia, Failure to thrive ORPHA:47159
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Failure to thrive, Small for gestational age OMIM:241200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Insulin-Resistance Syndrome Type B
Pneumonia, Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight ORPHA:2298
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Porphyria Cutanea Tarda
Addictive alcohol use ORPHA:101330
Cushing Disease
Increased body weight, Depression, Truncal obesity, Abdominal obesity, Emotional lability ORPHA:96253
Hellp Syndrome
Pleural effusion, Increased body weight ORPHA:244242
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Increased body weight, Weight loss, Depression, Truncal obesity, Abdominal obesity, Emo... ORPHA:99889
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359

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 Hnf4g

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 Hnf4g.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Gut microbial fatty acid isomerization modulates intraepithelial T cells. Nature (June 2023) Hnf4gem1(IMPC)Mbp 37380774

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hnf4gem1(IMPC)Mbp Exon Deletion Mice, Tissue
Hnf4gtm39941(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hnf4gtm39941(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hnf4gtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hnf4gtm39941(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hnf4gtm39941(L1L2_Pgk_PM) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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