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Gene: Aqp4 MGI:107387

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... OMIM:300510
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Absence of pubertal development, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... OMIM:612310
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Premature Ovarian Failure 7
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... OMIM:612964
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema, Unilateral deafness OMIM:612097
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... OMIM:617690
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... OMIM:614841
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614129
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... ORPHA:168563
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619834
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea ORPHA:397685
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus OMIM:277000
Premature Ovarian Failure 10
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... OMIM:612885
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... OMIM:615300
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... ORPHA:1916
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Deafness, Unilateral
Unilateral deafness OMIM:125000
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Primary amenorrhea, Abnormal internal genitalia, Aplasia of the uterus,... OMIM:273250
Hypogonadotropic Hypogonadism 25 With Anosmia
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... OMIM:618841
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Delayed puberty, Polycystic ovaries,... OMIM:615363
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Nephrogenic diabete... ORPHA:3130
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... OMIM:612965
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular size, Absence of secon... ORPHA:432
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures
Cerebral edema, Recurrent infections, Microcephaly, Cerebral atrophy, Corpus callosum atrophy OMIM:619876
Seckel Syndrome 7
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormality of the ovary, Hypoplasia of the uterus, Primary a... ORPHA:247768
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
Cerebral edema OMIM:614212
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
46,Xx Gonadal Dysgenesis
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... ORPHA:243
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Abnormal va... OMIM:194072
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Reversible Cerebral Vasoconstriction Syndrome
Leukoencephalopathy, Cerebral edema, Ischemic stroke, Cerebral hemorrhage, Transient ischemic att... ORPHA:284388
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... ORPHA:2795
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616032
Xp22.3 Microdeletion Syndrome
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea ORPHA:1643
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... ORPHA:90796
Glioblastoma
Abnormal cerebral white matter morphology, Cerebral edema, Abnormal corpus callosum morphology ORPHA:360
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:617783
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Frasier Syndrome
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... ORPHA:347
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Uterus didelphys, Metrorrhagia, Dyspareunia, Partial vaginal septum, Abnormal uterine cervix morp... ORPHA:3411
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Abnormal globus pallidus morphology, Abnormal cerebral white matter morphology, C... ORPHA:439218
Ovarian Fibrothecoma
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... ORPHA:314478
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... ORPHA:66628
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, Perineal hypospadias, True hermaphroditism... OMIM:278850
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... OMIM:220100
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
46,Xx Ovotesticular Disorder Of Sex Development
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Acute Disseminated Encephalomyelitis
Abnormal periventricular white matter morphology, Cerebral edema, Herpes simplex encephalitis, Se... ORPHA:83597
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... ORPHA:99429
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... ORPHA:2235
Focal Segmental Glomerulosclerosis 10
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... OMIM:256020
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level... OMIM:110100
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the uterus, Primary amenor... OMIM:158330
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Cerebral edema, Microcephaly, Cerebral atrophy OMIM:614462
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Cerebral edema OMIM:608033
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Cerebral edema, Congestive heart failure, Dilated cardiomyopathy OMIM:611126
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male infertility, Male pse... ORPHA:754
Ovarian Dysgenesis 3
Aplasia of the ovary, Delayed puberty, Female infertility, Elevated circulating luteinizing hormo... OMIM:614324
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal cerebral white matter morphology, Cerebral edema, Cerebral vasculitis ORPHA:83601
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormal putamen morphology, Choroid hemorrhage ORPHA:88619
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Cerebellar hemorrhage, Cerebral edema, Congestive heart failure, Dilated ca... ORPHA:99901
46,Xy Sex Reversal 4
Sex reversal, Hypoplastic labia majora, Agonadism, Hypergonadotropic hypogonadism, Gonadal dysgen... OMIM:154230
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Unilateral deafness ORPHA:1010
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Primary amenorrhe... OMIM:609441
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... OMIM:308990
Dural Sinus Malformation
Hypoplasia of the frontal lobes, Cerebellar hemorrhage, Cerebral edema, Cerebral hemorrhage, Intr... ORPHA:97339
Lujo Hemorrhagic Fever
Hypotension, Cerebral edema, Myocarditis, Severe viral infection, Generalized edema, Shock, Perio... ORPHA:319213
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Cerebral edema OMIM:237300
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Cerebral edema OMIM:201450
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Maple Syrup Urine Disease
Cerebral edema OMIM:248600
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Angiostrongyliasis
Cerebral edema, Unusual CNS infection, Meningitis ORPHA:74
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... ORPHA:65681
Citrullinemia, Type Ii, Adult-Onset
Cerebral edema OMIM:603471
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Total intestinal aganglionosis, Heari... OMIM:600501
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral edema, Dilated cardiomyopathy, Abnormal cerebral white matter morphology, Cerebral atrop... OMIM:618321
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pulmonary arterial hypertension, Cerebral edema, Reduced left ventricular ejection fraction, Liss... ORPHA:258
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary gonadal insufficiency, Impotence, Decreased serum estradiol, Aplasia of the ovary, Absenc... ORPHA:2232
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Streak ovary,... ORPHA:572333
46,Xy Sex Reversal 1
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... OMIM:400044
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Leukoencephalopathy, Cerebral edema, Cerebral white matter atrophy OMIM:617186
Migraine, Familial Hemiplegic, 2
Cerebral edema OMIM:602481
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypoplasia of penis, Hypogonadism, Cryptorchidism ORPHA:110
Ethylene Glycol Poisoning
Hypotension, Cerebral edema, Pulmonary edema, Congestive heart failure, Hypertension, Shock, Prol... ORPHA:31826
Japanese Encephalitis
Cerebral edema, Abnormal substantia nigra morphology, Abnormal cerebral morphology, Pulmonary ede... ORPHA:79139
Herpes Simplex Virus Encephalitis
Cerebral edema ORPHA:1930
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Cerebral edema, Congestive heart failure OMIM:619355
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... ORPHA:91348
Amoebiasis Due To Free-Living Amoebae
Encephalomalacia, Cerebral edema, Unusual skin infection, Abnormal cerebral white matter morpholo... ORPHA:68
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Neuroocular Syndrome
Anterior creases of earlobe, Low-set ears, Unilateral deafness, Cupped ear OMIM:619539
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Primary Hyperoxaluria Type 3
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... ORPHA:93600
Cryptococcosis
Cerebral edema, Cerebral cortical atrophy, Pleural effusion, Meningitis, Sepsis ORPHA:1546
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus OMIM:617914
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Hypoplasminogenemia
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis ORPHA:722
Familial Or Sporadic Hemiplegic Migraine
Cerebral edema ORPHA:569
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... ORPHA:79085
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Interstitial Cystitis
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormality of the ur... ORPHA:37202
Citrullinemia Type Ii
Cerebral edema ORPHA:247585
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... ORPHA:1215
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... OMIM:201050
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Mitochondrial Complex I Deficiency, Nuclear Type 1
Leukoencephalopathy, Cerebral edema, Focal T2 hypointense basal ganglia lesion, Concentric hypert... OMIM:252010
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... ORPHA:1772
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Hypoparathyroidism, Primary amenorrhea, Septate vagina, Aplasia of the vag... OMIM:146255
Popliteal Pterygium Syndrome
Hypoplasia of the vagina, Bifid scrotum, Hypoplastic labia majora, Cryptorchidism, Small scrotum,... OMIM:119500
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Hydrocele testis, Anteriorly displaced urethral meatus OMIM:266810
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria OMIM:260000
Citrullinemia, Classic
Cerebral edema OMIM:215700
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus OMIM:615866
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Maturity-... OMIM:137920
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Hypoplasia of the uterus, Ovotestis, Micropenis, Clitoral hypertrophy, Chordee OMIM:309801
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Isosexual precocious puberty, Ambiguous genitalia, Premature thelarche, P... ORPHA:90795
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
X-Linked Intellectual Disability, Snyder Type
Cerebral edema, Megalencephaly ORPHA:3063
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria, Abnormality of visual evoked potentials ORPHA:1933
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Cerebral edema OMIM:311250
Paragangliomas 1
Glomus jugular tumor, Elevated circulating catecholamine level, Glomus tympanicum paraganglioma, ... OMIM:168000
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:168558
Argininosuccinic Aciduria
Cerebral edema OMIM:207900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:289548
Paragangliomas 3
Glomus jugular tumor, Elevated circulating catecholamine level, Chemodectoma, Paraganglioma, Extr... OMIM:605373
Canavan Disease
Abnormality of visual evoked potentials, Hearing impairment ORPHA:141
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... ORPHA:90794
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Undetectable visual evoked potentials, Renal tubular acidosis, Neph... ORPHA:255249
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... OMIM:201750
Microphthalmia, Syndromic 9
Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus OMIM:601186
Acute Liver Failure
Hypotension, Cerebral edema, Intracranial hemorrhage, Shock, Gastrointestinal hemorrhage ORPHA:90062
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplastic labia majora, Clitoral hypoplasia, Elevated circulating luteinizing hormone level, Go... OMIM:618419
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment, Polyhydramnios, Oligohydramnios OMIM:193700
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Mogs-Cdg
Polyhydramnios, Sensorineural hearing impairment, Pulmonary edema, Optic atrophy, Absent brainste... ORPHA:79330
Leopard Syndrome 1
Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty, Hypospadias, Cryptorchidism, Micr... OMIM:151100
Peroxisomal Acyl-Coa Oxidase Deficiency
Low-set ears, Sensorineural hearing impairment, Abnormality of visual evoked potentials ORPHA:2971
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Lumbar Syndrome
Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus, Hypospadias, Cryptorc... ORPHA:83628
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Hypospadias, Gonadal dysgenesis, Cryptorchidism, Streak ovary, Uterus d... OMIM:618820
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Mild neurosensory hearing impairment, Tinnitus OMIM:601152
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... ORPHA:101085
Ruvalcaba Syndrome
Hematuria, Abnormal localization of kidney, Abnormality of visual evoked potentials ORPHA:3121
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... ORPHA:206436
Limb-Mammary Syndrome
Aplasia of the ovary, Absent nipple, Breast aplasia, Aplasia of the uterus, Primary amenorrhea, H... ORPHA:69085
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Bardet-Biedl Syndrome 1
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Vaginal atresia, Diabetes mell... OMIM:209900
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Parathyroid hypoplasia, Aplasia of the uterus, Diabetes mellitus, Hypoparathyroi... ORPHA:2237
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Hypoplasia of the ovary, Micropenis OMIM:619321
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Hearing impairment OMIM:256600
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormal autonomic nervous... OMIM:609136
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... ORPHA:95699
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
Cockayne Syndrome Type 1
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... ORPHA:90321
Alg9-Cdg
Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus ORPHA:79328
Exstrophy-Epispadias Complex
Female sexual dysfunction, Absent penis, Bifid scrotum, Penoscrotal transposition, Male sexual dy... ORPHA:322
Trisomy 10P
Macrotia, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked potentials, Abnor... ORPHA:171929
Xq12-Q13.3 Duplication Syndrome
Anterior creases of earlobe, Cleft earlobe, Abnormality of visual evoked potentials ORPHA:314389
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus OMIM:271520
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials ORPHA:352731
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials ORPHA:96
Oeis Complex
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male, La... OMIM:258040
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Micro Syndrome
Hypoplasia of penis, Abnormal localization of kidney, Abnormality of visual evoked potentials, Hy... ORPHA:2510
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple ORPHA:1521
Mepan Syndrome
Abnormality of visual evoked potentials ORPHA:508093
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
White-Sutton Syndrome
Sensorineural hearing impairment, Abnormality of the outer ear, Bilateral sensorineural hearing i... OMIM:616364
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... ORPHA:909
Pontocerebellar Hypoplasia Type 7
Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor... ORPHA:284339
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials ORPHA:168491
Peters Plus Syndrome
Anterior hypopituitarism, Clitoral hypoplasia, Hypospadias, Cryptorchidism, Congenital hypothyroi... ORPHA:709
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:216400
Peters-Plus Syndrome
Bilobate gallbladder, Hypoplasia of the vagina, Hypoplastic labia majora, Clitoral hypoplasia, Hy... OMIM:261540
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Chromosome 17Q12 Deletion Syndrome
Unicornuate uterus, Aplasia of the uterus, Urethral stenosis, Cryptorchidism, Ovarian cyst, Aplas... OMIM:614527
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Abnormality of visual evoked potentials ORPHA:309256
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Abnormal pinna morphology ORPHA:480898
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence, Abnormality of visual evoked potentials ORPHA:309263
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials OMIM:616875
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials ORPHA:35069
Schinzel-Giedion Syndrome
Central hypothyroidism, Hypospadias, Annular pancreas, Streak ovary, Micropenis ORPHA:798
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis OMIM:614083
Metachromatic Leukodystrophy, Adult Form
Urinary incontinence, Abnormality of visual evoked potentials ORPHA:309271
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Secondary amenorrhea, Prematur... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Secondary amenorrhea, Prematur... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Secondary amenorrhea, Prematur... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Secondary amenorrhea, Prematur... ORPHA:99226
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
3-Methylglutaconic aciduria, Abnormality of visual evoked potentials, Aciduria, Ethylmalonic acid... OMIM:203700
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials ORPHA:79431
Hermansky-Pudlak Syndrome
Renal insufficiency, Abnormality of visual evoked potentials ORPHA:79430
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials ORPHA:485421
Friedreich Ataxia
Abnormality of visual evoked potentials OMIM:229300
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Elevated circulating catecholamine level, Pancreatic islet cell adeno... ORPHA:892
Cardiac-Urogenital Syndrome
Ambiguous genitalia, Bifid scrotum, Unilateral cryptorchidism, Aplasia of the uterus, Penoscrotal... OMIM:618280
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Hearing impairment ORPHA:512
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials OMIM:231550
Norrie Disease
Uterine rupture, Erectile dysfunction, Diabetes mellitus, Delayed puberty, Cryptorchidism ORPHA:649
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Hydrolethalus Syndrome 1
Bifid uterus, Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology OMIM:236680
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Uterine rupture, Cryptorchidism, Cystocele, Uterine prolapse OMIM:130050
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Hearing impairment, Otitis media ORPHA:667
Townes-Brocks Syndrome 1
Hypothyroidism, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Hypospadias, Cryptorchidism, ... OMIM:107480
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Cryptorchidism, Hypoplastic n... OMIM:276820
Okamoto Syndrome
Bifid uterus ORPHA:2729
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520

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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