Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
aquaporin 4
Synonyms:
aquaporin-4

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Aqp4 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 Aqp4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema, Unilateral deafness OMIM:612097
Deafness, Unilateral
Unilateral deafness OMIM:125000
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Hearing impairment OMIM:600501
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Reversible Cerebral Vasoconstriction Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Vasospasm, Leukoencephalopathy, Cerebral edema, Transie... ORPHA:284388
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
Cerebral edema OMIM:614212
Glioblastoma
Cerebral edema, Abnormal corpus callosum morphology, Abnormal cerebral white matter morphology ORPHA:360
Kcnq2-Related Epileptic Encephalopathy
Abnormal globus pallidus morphology, Cerebral edema, Abnormal cerebral white matter morphology, H... ORPHA:439218
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Acute Disseminated Encephalomyelitis
Herpes simplex encephalitis, Hypointensity of cerebral white matter on MRI, Diffuse white matter ... ORPHA:83597
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cerebral edema, Congestive heart failure OMIM:611126
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Cerebral edema OMIM:608033
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral edema, Cardiomyopathy, Abnormal cerebral white matter morphology, Cerebral atrophy OMIM:618321
Familial Acute Necrotizing Encephalopathy
Abnormal putamen morphology, Cerebral edema, Choroid hemorrhage, Abnormality of thalamus morphology ORPHA:88619
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial palsy OMIM:617519
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cerebral edema, Congestive heart failure, Su... ORPHA:99901
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Unilateral deafness ORPHA:1010
Dural Sinus Malformation
Hypoplasia of the frontal lobes, Cerebral hemorrhage, Intracranial hemorrhage, Subdural hemorrhag... ORPHA:97339
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebral edema, Leukoencephalopathy OMIM:617186
Lujo Hemorrhagic Fever
Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia, Facial edema, Cerebral edema, Severe... ORPHA:319213
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Cerebral edema OMIM:237300
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Cerebral edema OMIM:201450
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Cerebral edema OMIM:311250
Maple Syrup Urine Disease
Cerebral edema OMIM:248600
Angiostrongyliasis
Meningitis, Cerebral edema, Unusual CNS infection ORPHA:74
Citrullinemia, Type Ii, Adult-Onset
Cerebral edema OMIM:603471
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Reduced ejection fraction, Pulmonary arterial hypertension, Cardiomyopathy, Recurrent lower respi... ORPHA:258
Japanese Encephalitis
Infectious encephalitis, Abnormal cerebral morphology, Abnormal caudate nucleus morphology, Abnor... ORPHA:79139
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Ethylene Glycol Poisoning
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Pulmonary edema, Ce... ORPHA:31826
Herpes Simplex Virus Encephalitis
Cerebral edema ORPHA:1930
Amoebiasis Due To Free-Living Amoebae
Infectious encephalitis, Unusual skin infection, Abnormal cerebral cortex morphology, Abnormal hy... ORPHA:68
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Cerebral edema, Congestive heart failure OMIM:619355
Cryptococcosis
Sepsis, Meningitis, Cerebral edema, Pleural effusion, Cerebral cortical atrophy ORPHA:1546
Neuroocular Syndrome
Low-set ears, Anterior creases of earlobe, Cupped ear, Unilateral deafness OMIM:619539
Familial Or Sporadic Hemiplegic Migraine
Cerebral edema ORPHA:569
Citrullinemia Type Ii
Cerebral edema ORPHA:247585
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Focal T2 hyperintense basal ... OMIM:252010
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... OMIM:201050
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... ORPHA:52368
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Urinary incontinence, Dysuria ORPHA:441
Citrullinemia, Classic
Cerebral edema OMIM:215700
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
X-Linked Intellectual Disability, Snyder Type
Cerebral edema, Megalencephaly ORPHA:3063
Argininosuccinic Aciduria
Cerebral edema OMIM:207900
Canavan Disease
Abnormality of visual evoked potentials, Hearing impairment ORPHA:141
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials OMIM:618195
Acute Liver Failure
Shock, Intracranial hemorrhage, Gastrointestinal hemorrhage, Cerebral edema, Hypotension ORPHA:90062
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Abnormality of visual evoked potentials, Methylmalonic aciduria ORPHA:1933
Arthrogryposis, Distal, Type 2A
Oligohydramnios, Abnormal auditory evoked potentials, Polyhydramnios, Hearing impairment OMIM:193700
Paragangliomas 1
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Chemode... OMIM:168000
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Paragangliomas 3
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Chemodectoma, Elevated circulating catec... OMIM:605373
Peroxisomal Acyl-Coa Oxidase Deficiency
Sensorineural hearing impairment, Low-set ears, Abnormality of visual evoked potentials ORPHA:2971
Mogs-Cdg
Optic atrophy, Edema, Absent brainstem auditory responses, Polyhydramnios, Sensorineural hearing ... ORPHA:79330
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Tinnitus, Mild neurosensory hearing impairment, Abnormality of visual evoked potentials OMIM:601152
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Ruvalcaba Syndrome
Hematuria, Abnormal localization of kidney, Delayed puberty, Abnormality of visual evoked potentials ORPHA:3121
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... ORPHA:101085
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Hearing impairment OMIM:256600
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Orthostatic ... ORPHA:99027
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... ORPHA:206436
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Urinary incontinence, Abnormality of visual evoked potentials OMIM:125310
Stargardt Disease
Abnormality of visual evoked potentials ORPHA:827
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Hearing impairment ORPHA:702
White-Sutton Syndrome
Abnormality of visual evoked potentials, Posteriorly rotated ears, Abnormality of the outer ear, ... OMIM:616364
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Diabetes mellitus ORPHA:96
Cockayne Syndrome Type 1
Optic atrophy, Macrotia, Absent brainstem auditory responses, Hearing impairment, Abnormality of ... ORPHA:90321
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials OMIM:617523
Trisomy 10P
Abnormal auditory evoked potentials, Low voltage EEG, Macrotia, Posteriorly rotated ears, EEG wit... ORPHA:171929
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Decreased serum insulin-like growth factor 1 ORPHA:314389
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ethylmalonic aciduria, 3-Methylglutaconic aciduria, Abnormality of visual evoked potentials, Acid... OMIM:203700
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials ORPHA:352731
Micro Syndrome
Hydronephrosis, Abnormality of visual evoked potentials, Abnormal localization of kidney, Hypopla... ORPHA:2510
Von Hippel-Lindau Disease
Adrenal pheochromocytoma, Pancreatic endocrine tumor, Renal cell carcinoma, Elevated urinary cate... ORPHA:892
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Abnormality of visual evoked potentials OMIM:614457
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:216400
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:133540
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Optic disc pallor, Abnormal auditory evoked potentials, Abnormal... ORPHA:909
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials ORPHA:168491
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating aldosterone level, Abnormality of visual evoked potentials, Adrenocorticotr... OMIM:231550
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Abnormality of the pinna ORPHA:480898
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Bilateral sensorineural hearing impairment ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Bilateral sensorineural hearing impairment ORPHA:309263
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials OMIM:616875
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials ORPHA:35069
Friedreich Ataxia
Abnormality of visual evoked potentials, Diabetes mellitus OMIM:229300
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Bilateral sensorineural hearing impairment ORPHA:309271
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials ORPHA:79431
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials ORPHA:485421
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Renal insufficiency ORPHA:79430
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Hearing impairment ORPHA:512
Autosomal Recessive Malignant Osteopetrosis
Otitis media, Abnormality of visual evoked potentials, Hearing impairment ORPHA:667

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 Aqp4

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 Aqp4.

No publications found that use IMPC mice or data for Aqp4.

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MGI Allele Allele Type Produced
Aqp4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aqp4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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