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Gene: Hnf4g MGI:1353604

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Gene Summary

Name:
hepatocyte nuclear factor 4, gamma
Synonyms:
NR2A2

Order Alleles

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
abnormal kidney morphology Hnf4gem1(IMPC)Mbp HOM Early adult 0.00
small kidney Hnf4gem1(IMPC)Mbp HOM Early adult 0.00
abnormal auditory brainstem response Hnf4gem1(IMPC)Mbp HOM   Early adult 6.37×10-05

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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

60 Images

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X-ray

XRay Images Whole Body Lateral Orientation

20 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
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness OMIM:618221
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Impaired social interactions, Aggressive behavior, No social interaction, Obesity ORPHA:329249
Perry Syndrome
Suicidal ideation, Apathy, Short stepped shuffling gait, Respiratory insufficiency, Anxiety, Disi... OMIM:168605
Carcinoma Of Esophagus
Cough, Dysphagia, Weight loss, Obesity ORPHA:70482
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Urinary bladder sphincter dysfunction, Abnormal auditory evoked... ORPHA:320401
Pick Disease Of Brain
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Irritability, Emotional blunting, Dimi... OMIM:172700
Hereditary Central Diabetes Insipidus
Polydipsia, Irritability, Weight loss ORPHA:30925
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Se... OMIM:616648
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder, Increased resting energy expenditure, Obesity ORPHA:369873
Obsolete: Early-Onset Schizophrenia
Emotional lability, Polyphagia, Suicidal ideation, Shyness, Abnormal emotion/affect behavior, Res... ORPHA:96369
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Ataxia, Inappropriate laughter, Happy demeanor, Broad-based gait, Obesity ORPHA:411515
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Intellectual Developmental Disorder, Autosomal Recessive 46
Ataxia, Agitation, Self-injurious behavior, Aggressive behavior, Large for gestational age OMIM:616116
Spinocerebellar Ataxia Type 27
Limb ataxia, Gait disturbance, Difficulty walking, Gait ataxia, Akinesia, Aggressive behavior, Tr... ORPHA:98764
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Emotional lability, Obesity OMIM:309585
Spinocerebellar Ataxia 21
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Apathy, Gait ataxia, Akinesia, Aggressive beh... OMIM:607454
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Tall stature, Obesity OMIM:618406
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Anxiety, Attention deficit hyperactivity disorder, Failure to thrive in infancy, Self-injurious b... OMIM:613670
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Unsteady gait, Falls, Short stepped shuffling gait, Loss of ambulation, Gait imbalance, Neuromusc... ORPHA:240094
Congenital Myopathy 9A
Akinesia, Obstructive sleep apnea, Obesity OMIM:618822
Central Diabetes Insipidus
Polydipsia, Anxiety, Weight loss, Failure to thrive ORPHA:178029
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Irritability, Abnormal aggressive, impulsi... ORPHA:3077
Obesity And Hypopigmentation
Polyphagia, Overgrowth, Obesity OMIM:620195
Intellectual Developmental Disorder, X-Linked 108
Difficulty walking, Attention deficit hyperactivity disorder, Overweight, Broad-based gait OMIM:301024
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Leptin Receptor Deficiency
Emotional lability, Abnormal eating behavior, Polyphagia, Aggressive behavior, Obesity OMIM:614963
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Anxiety, Attention deficit hyperactivity disorder, Obesity OMIM:618725
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy OMIM:617519
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Hyperactivity, Anxiety, Abnormal social behavior, Aggressive behavior, ... ORPHA:101039
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Self-mutilation, Aggressive behavior, Obesity OMIM:616521
Bardet-Biedl Syndrome 22
Polyphagia, Large for gestational age, Obesity OMIM:617119
Manganese Poisoning
Emotional lability, Gait disturbance, Inappropriate laughter, Irritability, Akinesia, Aggressive ... ORPHA:306682
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Bardet-Biedl Syndrome 9
Polyphagia, Obesity, Polydipsia, Truncal obesity OMIM:615986
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment OMIM:125250
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Nephronophthisis-Like Nephropathy 2
Cough, Polydipsia, Bronchiectasis OMIM:619468
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Bulimia, Overweight, Obesity OMIM:614651
Leptin Deficiency Or Dysfunction
Polyphagia, Recurrent pneumonia, Obesity OMIM:614962
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight OMIM:620065
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Intellectual Developmental Disorder With Autism And Macrocephaly
Tall stature, Anxiety, Pica, Overweight OMIM:615032
Postencephalitic Parkinsonism
Abnormal respiratory system physiology, Cough, Abnormal aggressive, impulsive or violent behavior... ORPHA:97349
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Hereditary Late-Onset Parkinson Disease
Apathy, Agitation, Dysphagia, Weight loss, Akinesia, Low frustration tolerance, Shuffling gait, I... ORPHA:411602
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Ataxia, Inappropriate laughter, Dysphagia, Gait imbalance, Happy demean... ORPHA:411511
Abcd Syndrome
Abnormal auditory evoked potentials, Total intestinal aganglionosis, Aganglionic megacolon, Heari... OMIM:600501
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Obesity OMIM:301013
Kufor-Rakeb Syndrome
Gait disturbance, Ataxia, Dysphagia, Akinesia, Aggressive behavior OMIM:606693
Adiposis Dolorosa
Anxiety, Obesity OMIM:103200
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... OMIM:601596
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Childhood-onset truncal obesity, Obesity, Failure to thrive ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Childhood-onset truncal obesity, Obesity, Failure to thrive ORPHA:71526
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Obesity OMIM:240900
Atypical Juvenile Parkinsonism
Inability to walk, Short stepped shuffling gait, Gait ataxia, Akinesia, Shuffling gait ORPHA:391411
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Irritability, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Irritability, Failure to thrive OMIM:304800
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Attention deficit hyperactivity disorder, Gait disturbance, Impulsivity ORPHA:589905
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia ORPHA:98773
Classic Progressive Supranuclear Palsy Syndrome
Falls, Gait imbalance, Neuromuscular dysphagia, Akinesia, Impulsivity ORPHA:240071
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Anxiety, Aggressive behavior OMIM:300894
Pediatric-Onset Graves Disease
Emotional lability, Polyphagia, Hyperactivity, Irritability, Failure to thrive, Polydipsia, Neona... ORPHA:525731
Luscan-Lumish Syndrome
Polyphagia, Shyness, Anxiety, Overgrowth, Aggressive behavior, Obesity OMIM:616831
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Abnormal eating behavior, Hyperactivity, Ataxia, Inappropriate laughter, Dysphagia, Gait imbalanc... ORPHA:98794
Arthrogryposis Multiplex Congenita 6
Akinesia, Respiratory failure OMIM:619334
Hepatic Veno-Occlusive Disease
Respiratory failure, Increased body weight ORPHA:890
Wagro Syndrome
Emotional lability, Polyphagia, Impaired social interactions, Agitation, Anxiety, Low frustration... OMIM:612469
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Dysdiadochokinesis, Dysphagia, Gait ataxia, Akinesia, Shuffling gait ORPHA:247234
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Pulmonary arterial hypertension, Abnormal eating behavior, Hyperac... ORPHA:209905
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Emotional lability, Ataxia, Restlessness, Apnea, Spastic gait, Choreoathetosis, Shuffling gait, O... OMIM:300055
Non Rare In Europe: Central Precocious Puberty
Obesity, Overgrowth, Increased body weight ORPHA:759
East Syndrome
Inability to walk, Difficulty walking, Ataxia, Salt craving, Polydipsia ORPHA:199343
Lethal Congenital Contracture Syndrome 2
Akinesia, Respiratory failure OMIM:607598
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal cochlea morphology, Prelingual sensorineural hearin... ORPHA:52368
Parkinson Disease 17
Akinesia OMIM:614203
Myofibrillar Myopathy 11
Dysphagia, Reduced forced vital capacity, Overweight OMIM:619178
Gaucher Disease, Perinatal Lethal
Apathy, Apnea, Dysphagia, Respiratory distress, Akinesia, Decreased body weight OMIM:608013
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Broad-based gait, Increased body weight OMIM:614450
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Agitation ORPHA:276608
Congenital Myopathy 12
Akinesia, Respiratory insufficiency due to muscle weakness, Small for gestational age OMIM:612540
Familial Cold Urticaria
Polydipsia ORPHA:47045
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Self-mutilation, Shyness, Self-injurious behavior, Aggressive behavior,... ORPHA:293948
Cntnap2-Related Developmental And Epileptic Encephalopathy
Self-mutilation, Intermittent hyperventilation, Hyperactivity, Ataxia, Skin-picking, Low frustrat... ORPHA:163681
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait OMIM:619911
Cystinosis
Polydipsia, Gait disturbance, Failure to thrive ORPHA:213
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Supranuclear Palsy, Progressive, 2
Apathy, Falls, Irritability, Dysphagia, Gait imbalance, Akinesia OMIM:609454
Mitochondrial Complex I Deficiency, Nuclear Type 28
Akinesia, Choreoathetosis, Truncal ataxia, Failure to thrive OMIM:618249
Familial Hyperaldosteronism Type I
Polydipsia, Epistaxis ORPHA:403
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Bardet-Biedl Syndrome 17
Polydipsia, Obesity OMIM:615994
Corticobasal Syndrome
Akinesia, Gait disturbance ORPHA:454887
Angelman Syndrome
Hyperactivity, Ataxia, Progressive gait ataxia, Paroxysmal bursts of laughter, Happy demeanor, Br... OMIM:105830
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Whipple Disease
Ataxia, Respiratory insufficiency, Cough, Cachexia, Polydipsia ORPHA:3452
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Epistaxis, Pulmonary arterial hypertension, Athetosis ORPHA:369929
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Attention deficit hyperactivity disorder, Increased body weight OMIM:274300
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hyperactivity, Failure to thrive, Obstructive sleep apnea, Obesity ORPHA:412035
Fetal Akinesia Deformation Sequence
Akinesia, Respiratory insufficiency ORPHA:994
Teratoma, Pineal
Polydipsia OMIM:273120
Angelman Syndrome
Polyphagia, Inability to walk, Hyperactivity, Ataxia, Inappropriate laughter, Anxiety, Self-injur... ORPHA:72
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Ochoa Syndrome
Polydipsia ORPHA:2704
Smith-Magenis Syndrome
Head-banging, Self-mutilation, Hyperactivity, Increased body weight OMIM:182290
Supranuclear Palsy, Progressive, 1
Apathy, Falls, Irritability, Dysphagia, Gait imbalance, Akinesia OMIM:601104
Obesity-Hypoventilation Syndrome
Hypoventilation, Obesity OMIM:257500
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Small for gestational age, Failure to thrive OMIM:619147
Hyperparathyroidism, Neonatal Severe
Polydipsia, Dyspnea, Failure to thrive, Tachypnea OMIM:239200
Adult Krabbe Disease
EEG abnormality, Urinary incontinence, Prolonged brainstem auditory evoked potentials ORPHA:206448
Aceruloplasminemia
Limb ataxia, Apathy, Ataxia, Gait ataxia, Akinesia ORPHA:48818
Familial Hyperaldosteronism Type Iii
Polydipsia, Epistaxis ORPHA:251274
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Emotional lability, Polyphagia, Impaired social interactions, Anxiety, Cardiorespiratory arrest, ... ORPHA:293987
Insulinoma
Polyphagia, Anxiety, Increased body weight ORPHA:97279
Autosomal Dominant Cerebellar Ataxia
Gait disturbance, Progressive cerebellar ataxia, Pseudobulbar paralysis, Akinesia, Choreoathetosis ORPHA:99
Septo-Optic Dysplasia Spectrum
Polydipsia, Obesity ORPHA:3157
Adult-Onset Autosomal Dominant Leukodystrophy
Urinary retention, Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, U... ORPHA:99027
Childhood Absence Epilepsy
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior, Hyperventilation ORPHA:64280
Obesity Due To Leptin Receptor Gene Deficiency
Emotional lability, Polyphagia, Obesity ORPHA:179494
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Urinary incontinence, Decreased nerve conduction velocity, O... ORPHA:101085
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Apparent Mineralocorticoid Excess
Polydipsia, Failure to thrive ORPHA:320
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polydipsia, Ataxia, Dysdiadochokinesis OMIM:612780
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Aggressive behavior, Increased body weight OMIM:300860
Wilson Disease
Difficulty walking, Failure to thrive, Increased body weight, Aggressive behavior, Weight loss ORPHA:905
Erdheim-Chester Disease
Dyspnea, Ataxia, Cough, Polydipsia, Pleural effusion, Weight loss ORPHA:35687
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Epistaxis ORPHA:231580
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Nephrogenic Diabetes Insipidus
Polydipsia, Failure to thrive ORPHA:223
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Gitelman Syndrome
Salt craving, Polydipsia, Ataxia, Failure to thrive OMIM:263800
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Autosomal Recessive Spastic Paraplegia Type 11
Emotional lability, Gait disturbance, Inability to walk, Ataxia, Overweight, Dysphagia, Obesity ORPHA:2822
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Cough, Respiratory distress, Dysphagia, Polydipsia, Weight loss ORPHA:537
Cockayne Syndrome Type 1
Proteinuria, Absent brainstem auditory responses, Renal insufficiency, Hearing impairment, Abnorm... ORPHA:90321
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... ORPHA:206436
Renal Hypoplasia
Polydipsia, Small for gestational age ORPHA:93101
Nephronophthisis 4
Polydipsia OMIM:606966
Trisomy 10P
Low-set ears, Low voltage EEG, EEG with focal spikes, Posteriorly rotated ears, Multiple renal cy... ORPHA:171929
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Senior-Boichis Syndrome
Suicidal ideation, Agitation, Attention deficit hyperactivity disorder, Polydipsia, Aggressive be... ORPHA:84081
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Impaired oropharyngeal swallow response, Small for gestational age, Inability to walk, Decreased ... ORPHA:404454
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Obesity OMIM:609734
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age, Agitation ORPHA:263455
Dpagt1-Cdg
Head-banging, Inability to walk, Ataxia, Failure to thrive, Akinesia, Emotional blunting, Aggress... ORPHA:86309
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Magel2-Related Prader-Willi-Like Syndrome
Polyphagia, Central sleep apnea, Failure to thrive, Sleep apnea, Obstructive sleep apnea, Skin-pi... ORPHA:398069
Wolfram Syndrome
Respiratory insufficiency, Polydipsia, Central apnea, Ataxia ORPHA:3463
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Short-segment aganglionic megacolon, Absent brainstem audit... OMIM:609136
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Hyperactivity, Ataxia, Dysphagia, Akinesia, Choreoathetosis OMIM:234200
Nephronophthisis 1
Polydipsia OMIM:256100
Nephronophthisis 3
Polydipsia OMIM:604387
Arthrogryposis Multiplex Congenita 5
Akinesia, Neonatal respiratory distress, Restrictive ventilatory defect OMIM:618947
Sotos Syndrome
Overgrowth, Attention deficit hyperactivity disorder, Tall stature, Increased body weight, Aggres... OMIM:117550
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Increased body weight OMIM:615830
Joubert Syndrome 8
Obesity, Ataxia, Hyperventilation OMIM:612291
Nephronophthisis 11
Polydipsia OMIM:613550
Oligomeganephronia
Polydipsia, Small for gestational age ORPHA:2260
Adrenocortical Carcinoma
Anxiety, Irritability, Panic attack, Increased body weight, Weight loss ORPHA:1501
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses ORPHA:79330
Cockayne Syndrome B
Proteinuria, Micropenis, Abnormal pinna morphology, Renal insufficiency, Decreased nerve conducti... OMIM:133540
Cockayne Syndrome A
Proteinuria, Micropenis, Abnormal pinna morphology, Renal insufficiency, Decreased nerve conducti... OMIM:216400
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Optic di... ORPHA:909
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Arima Syndrome
Polydipsia, Dyspnea, Ataxia, Tachypnea OMIM:243910
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Hypomagnesemia 3, Renal
Polydipsia, Failure to thrive OMIM:248250
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Helix Syndrome
Polydipsia OMIM:617671
Panhypophysitis
Polydipsia ORPHA:95513
Infantile Nephropathic Cystinosis
Polydipsia, Failure to thrive ORPHA:411629
Distal Renal Tubular Acidosis
Respiratory insufficiency due to muscle weakness, Polydipsia, Failure to thrive ORPHA:18
African Trypanosomiasis
Gait disturbance, Apathy, Difficulty walking, Anxiety, Irritability, Akinesia, Aggressive behavio... ORPHA:3385
Parathyroid Carcinoma
Dysphagia, Polydipsia, Weight loss ORPHA:143
Rabson-Mendenhall Syndrome
Polydipsia ORPHA:769
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Gitelman Syndrome
Respiratory distress, Polydipsia, Salt craving, Failure to thrive ORPHA:358
Cystinosis, Nephropathic
Failure to thrive in infancy, Dysphagia, Polydipsia, Oral-pharyngeal dysphagia, Weight loss OMIM:219800
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Emotional lability, Abdominal obesity, Increased body weight ORPHA:189427
Juvenile Nephropathic Cystinosis
Polydipsia, Failure to thrive ORPHA:411634
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia, Failure to thrive OMIM:602522
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Emotional lability, Abdominal obesity, Increased body weight ORPHA:189439
Hyperparathyroidism-Jaw Tumor Syndrome
Dysphagia, Polydipsia ORPHA:99880
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Hypoventilation, Polydipsia, Recurrent pneumonia, Respiratory failure 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, Small for gestational age, Failure to thrive OMIM:241200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Pneumonia, Increased body weight, Decreased body weight, Weight loss ORPHA:2298
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Cushing Disease
Emotional lability, Suicidal ideation, Truncal obesity, Panic attack, Increased body weight, Abdo... ORPHA:96253
Hellp Syndrome
Pleural effusion, Increased body weight ORPHA:244242
Cushing Syndrome Due To Ectopic Acth Secretion
Emotional lability, Suicidal ideation, Anxiety, Truncal obesity, Panic attack, Increased body wei... ORPHA:99889
Carney Complex
Tall stature, Abdominal obesity, Increased body weight 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.

No publications found that use IMPC mice or data for Hnf4g.

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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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