Gene Summary

Name:
hepatocyte nuclear factor 4, gamma
Synonyms:
NR2A2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Hnf4gem1(IMPC)Mbp HOM   Early adult 5.04×10-05
abnormal kidney morphology Hnf4gem1(IMPC)Mbp HOM Early adult 0.00
small kidney Hnf4gem1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

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
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
No social interaction, Polyphagia, Aggressive behavior, Obesity, Impaired social interactions ORPHA:329249
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Large for gestational age ORPHA:356996
Hereditary Central Diabetes Insipidus
Weight loss, Irritability, Polydipsia, Lethargy ORPHA:30925
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Aggressive behavior OMIM:616521
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Obesity, Hyperphagia, And Developmental Delay
Obesity, Poor eye contact, Polyphagia OMIM:613886
Early-Onset Schizophrenia
Shyness, No social interaction, Unhappy demeanor, Polyphagia, Suicidal ideation, Lack of peer rel... ORPHA:96369
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Carcinoma Of Esophagus
Obesity, Weight loss, Cough, Dysphagia ORPHA:70482
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Macrosomia Adiposa Congenita
Obesity, Polyphagia, Large for gestational age OMIM:248100
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Weight loss, Anxiety, Lethargy ORPHA:178029
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Emotional lability OMIM:309585
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Tall stature OMIM:618406
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Polyphagia, Hyperactivity, Ataxia, Broad-based gait, Obesity ORPHA:411515
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Gait disturbance ORPHA:436141
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Self-injurious behavior, Aggressive behavior, Attention deficit hyp... OMIM:613670
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality OMIM:617519
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Leptin Deficiency Or Dysfunction
Obesity, Recurrent pneumonia, Abnormal eating behavior, Polyphagia OMIM:614962
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder, Recurrent sinusitis OMIM:300310
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Polyphagia ORPHA:71529
Bardet-Biedl Syndrome 22
Obesity, Polyphagia, Large for gestational age OMIM:617119
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Abnormal eating behavior, Hyperactivity, Abnormal social behavior, Anxiety ORPHA:101039
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Poor eye contact, Abnormal social behavior, Obesity, Attention deficit hyperactivity dis... ORPHA:444002
Obesity Due To Sim1 Deficiency
Obesity, Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Leptin Receptor Deficiency
Obesity, Aggressive behavior, Abnormal eating behavior, Polyphagia OMIM:614963
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Respiratory insufficiency, Large for gestational age ORPHA:2432
Adenocarcinoma Of The Esophagus
Obesity, Cough ORPHA:99976
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Ataxia, Inability to walk, Waddling gait, Broad-based gait, Obesity OMIM:616756
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity, Anxiety OMIM:618725
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Bardet-Biedl Syndrome 9
Obesity, Polydipsia, Polyphagia, Truncal obesity OMIM:615986
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Abnormal social behavior, Agoraphobia, Inability to wal... ORPHA:255
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Nephronophthisis-Like Nephropathy 2
Cough, Polydipsia, Bronchiectasis OMIM:619468
Autism, Susceptibility To, 18
Anxiety, Overweight, Tall stature OMIM:615032
Acquired Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:95626
Adiposis Dolorosa
Obesity, Anxiety OMIM:103200
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Obesity, Anxiety OMIM:301013
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Obesity, Childhood-onset truncal obesity, Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Obesity, Childhood-onset truncal obesity, Polyphagia ORPHA:71526
Clark-Baraitser Syndrome
Hyperactivity, Obesity, Aggressive behavior OMIM:617752
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Irritability, Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Irritability, Polydipsia OMIM:304800
Luscan-Lumish Syndrome
Shyness, Overgrowth, Polyphagia, Aggressive behavior, Obesity, Anxiety OMIM:616831
Pediatric-Onset Graves Disease
Mood swings, Polyphagia, Polydipsia, Failure to thrive, Hyperactivity, Irritability, Neonatal asp... ORPHA:525731
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Polyphagia OMIM:609734
6Q16 Microdeletion Syndrome
Obesity, Polyphagia, Broad-based gait ORPHA:171829
Brain-Lung-Thyroid Syndrome
Dystonia, Abnormal drinking behavior, Neonatal respiratory distress, Failure to thrive, Pulmonary... ORPHA:209905
Spastic Paraplegia 11, Autosomal Recessive
Dysphagia, Spastic gait, Ataxia, Tip-toe gait, Obesity OMIM:604360
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Hepatic Veno-Occlusive Disease
Respiratory failure, Increased body weight ORPHA:890
Angelman Syndrome Due To A Point Mutation
Dysphagia, Happy demeanor, Gait imbalance, Abnormal eating behavior, Ataxia, Broad-based gait, Ob... ORPHA:411511
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia ORPHA:177910
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... ORPHA:52368
Central Precocious Puberty
Obesity, Overgrowth, Increased body weight ORPHA:759
Myofibrillar Myopathy 11
Dysphagia, Reduced forced vital capacity, Overweight OMIM:619178
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Large for gestational age, Lethargy ORPHA:276556
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Polyphagia, Small for gestational age, Large for gestational age ORPHA:324575
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Aggressive behavior, Self-mutilation, Poor eye contact, Hyperactivity, Ataxia, Low ... ORPHA:163681
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Broad-based gait, Increased body weight OMIM:614450
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Dystonia, Spastic gait, Apnea, Shuffling gait, Bradykinesia, Ataxia, Emotional lability, Obesity OMIM:300055
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity, Obstructive sleep apnea, Akinesia OMIM:618822
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Idiopathic Intracranial Hypertension
Obesity, Abnormal emotion/affect behavior, Lethargy ORPHA:238624
1P21.3 Microdeletion Syndrome
Shyness, Self-injurious behavior, Aggressive behavior, Self-mutilation, Abnormal eating behavior,... ORPHA:293948
East Syndrome
Polydipsia, Salt craving, Ataxia, Inability to walk, Difficulty walking ORPHA:199343
Insulinoma
Anxiety, Polyphagia, Increased body weight, Lethargy ORPHA:97279
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Large for gestational age, Lethargy ORPHA:276575
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Obesity, Ataxia ORPHA:459033
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Large for gestational age, Lethargy ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Lethargy ORPHA:276608
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Happy demeanor, Gait imbalance, Abnormal eating behavior, Hyperactivity, Ataxia, Broad... ORPHA:98794
Familial Cold Urticaria
Polydipsia ORPHA:47045
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia OMIM:304900
Bardet-Biedl Syndrome 17
Obesity, Polydipsia OMIM:615994
Cystinosis
Failure to thrive, Gait disturbance, Polydipsia ORPHA:213
Familial Hyperaldosteronism Type I
Epistaxis, Polydipsia ORPHA:403
13Q12.3 Microdeletion Syndrome
Obstructive sleep apnea, Failure to thrive, Self-mutilation, Hyperactivity, Obesity ORPHA:412035
Smith-Magenis Syndrome
Hyperactivity, Self-mutilation, Head-banging, Increased body weight OMIM:182290
Adult Krabbe Disease
Urinary incontinence, EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Joubert Syndrome 32
Ataxia, Large for gestational age, Tall stature OMIM:617757
Obesity-Hypoventilation Syndrome
Obesity, Hypoventilation OMIM:257500
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Pulmonary arterial hypertension, Epistaxis, Polydipsia ORPHA:369929
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Whipple Disease
Cachexia, Respiratory insufficiency, Polydipsia, Cough, Ataxia ORPHA:3452
Angelman Syndrome
Dysphagia, Happy demeanor, Polyphagia, Self-injurious behavior, Aggressive behavior, Poor eye con... ORPHA:72
Teratoma, Pineal
Polydipsia OMIM:273120
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Familial Hyperaldosteronism Type Iii
Epistaxis, Polydipsia ORPHA:251274
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obstructive sleep apnea, Polyphagia, Polydipsia, Self-injurious behavior, Aggressive behavior, Ce... ORPHA:293987
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Urinary urgency, Abnormality of somatosensory evoked potenti... ORPHA:99027
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Dyspnea, Tachypnea, Polydipsia OMIM:239200
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Pulmonary arterial hypertension OMIM:614651
Ochoa Syndrome
Polydipsia ORPHA:2704
Charcot-Marie-Tooth Disease Type 1F
Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve conduction velocity,... ORPHA:101085
Wilson Disease
Failure to thrive, Weight loss, Aggressive behavior, Difficulty walking, Increased body weight ORPHA:905
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Aggressive behavior, Increased body weight OMIM:300860
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Emotional lability, Polyphagia ORPHA:179494
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Salt craving, Ataxia, Dysdiadochokinesis, Polydipsia OMIM:612780
Septo-Optic Dysplasia Spectrum
Obesity, Polydipsia ORPHA:3157
Apparent Mineralocorticoid Excess
Failure to thrive, Polydipsia ORPHA:320
48,Xxxy Syndrome
Anxiety, Tall stature, Attention deficit hyperactivity disorder, Irritability, Pulmonary embolism... ORPHA:96263
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Athetosis, Dystonia, Impaired oral bolus formation, Lingual dystonia, Small for gestational age, ... ORPHA:404454
Autosomal Recessive Spastic Paraplegia Type 11
Gait disturbance, Dysphagia, Ataxia, Inability to walk, Emotional lability, Overweight, Obesity ORPHA:2822
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Nephrogenic Diabetes Insipidus
Failure to thrive, Polydipsia ORPHA:223
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Macrotia, Hearing impairment, Abnormality of ... ORPHA:90321
Trisomy 10P
Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, EEG wit... ORPHA:171929
Erdheim-Chester Disease
Polydipsia, Weight loss, Cough, Ataxia, Dyspnea, Pleural effusion ORPHA:35687
Magel2-Related Prader-Willi-Like Syndrome
Skin-picking, Obstructive sleep apnea, Polyphagia, Failure to thrive, Central sleep apnea, Abdomi... ORPHA:398069
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Polydipsia ORPHA:231580
Gitelman Syndrome
Failure to thrive, Ataxia, Salt craving, Polydipsia OMIM:263800
Sim1-Related Prader-Willi-Like Syndrome
Skin-picking, Obstructive sleep apnea, Polyphagia, Failure to thrive, Central sleep apnea, Abdomi... ORPHA:398079
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
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Senior-Boichis Syndrome
Attention deficit hyperactivity disorder, Suicidal ideation, Aggressive behavior, Polydipsia ORPHA:84081
Toxic Epidermal Necrolysis
Dysphagia, Polydipsia, Weight loss, Cough, Respiratory distress, Restrictive ventilatory defect ORPHA:537
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Nephronophthisis 4
Polydipsia OMIM:606966
Hyperinsulinism Due To Hnf4A Deficiency
Lethargy, Increased body weight, Large for gestational age ORPHA:263455
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Dysphagia, Abnormal pattern of respiration, Self-injurious behavior, Aggressive behavior, Truncal... ORPHA:466950
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Increased body weight OMIM:615830
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:216400
Nephronophthisis 3
Polydipsia OMIM:604387
Wolfram Syndrome
Ataxia, Central apnea, Respiratory insufficiency, Polydipsia ORPHA:3463
Joubert Syndrome 8
Obesity, Ataxia, Hyperventilation OMIM:612291
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:133540
Adrenocortical Carcinoma
Weight loss, Irritability, Panic attack, Anxiety, Increased body weight ORPHA:1501
Nephronophthisis 1
Polydipsia OMIM:256100
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Oligomeganephronia
Polydipsia, Small for gestational age ORPHA:2260
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... ORPHA:909
Mogs-Cdg
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses ORPHA:79330
Nephronophthisis 11
Polydipsia OMIM:613550
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Hypomagnesemia 3, Renal
Failure to thrive, Polydipsia OMIM:248250
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Helix Syndrome
Polydipsia OMIM:617671
Distal Renal Tubular Acidosis
Failure to thrive, Respiratory insufficiency due to muscle weakness, Polydipsia ORPHA:18
Panhypophysitis
Polydipsia ORPHA:95513
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Infantile Nephropathic Cystinosis
Failure to thrive, Polydipsia ORPHA:411629
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Emotional lability, Abdominal obesity, Increased body weight ORPHA:189427
Parathyroid Carcinoma
Weight loss, Dysphagia, Polydipsia ORPHA:143
Rabson-Mendenhall Syndrome
Polydipsia ORPHA:769
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Failure to thrive in infancy, Dysphagia, Polydipsia OMIM:219800
Primary Pigmented Nodular Adrenocortical Disease
Emotional lability, Abdominal obesity, Increased body weight ORPHA:189439
Gitelman Syndrome
Failure to thrive, Salt craving, Respiratory distress, Polydipsia ORPHA:358
Mend Syndrome
Abnormal auditory evoked potentials ORPHA:401973
Juvenile Nephropathic Cystinosis
Failure to thrive, Polydipsia ORPHA:411634
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Hypoventilation, Recurrent pneumonia, Spontaneous pneumothorax, Respiratory failure ORPHA:731
Hyperparathyroidism-Jaw Tumor Syndrome
Dysphagia, Polydipsia ORPHA:99880
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, Weight loss, Decreased body weight, Increased body weight ORPHA:2298
Proximal Renal Tubular Acidosis
Failure to thrive, Polydipsia ORPHA:47159
Bartter Syndrome, Type 2, Antenatal
Failure to thrive, Polydipsia, Small for gestational age OMIM:241200
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia ORPHA:93111
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Cushing Disease
Suicidal ideation, Truncal obesity, Emotional lability, Abdominal obesity, Panic attack, Increase... ORPHA:96253
Hellp Syndrome
Pleural effusion, Increased body weight ORPHA:244242
Cushing Syndrome Due To Ectopic Acth Secretion
Suicidal ideation, Weight loss, Truncal obesity, Emotional lability, Abdominal obesity, Panic att... 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.

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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