Not currently registered for phenotyping at IMPC

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

Gene Summary

aquaporin 5

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Aqp5 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.

The table below shows human diseases associated to Aqp5 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Palmoplantar Keratoderma, Bothnian Type
Diffuse Palmoplantar Keratoderma, Bothnian Type

The table below shows human diseases predicted to be associated to Aqp5 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Epiphora, Opacification of the corneal stroma, Keratitis OMIM:148200
Corneal Dystrophy, Meesmann, 1
Epiphora, Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Alacrima, Congenital, Autosomal Dominant
Punctate corneal epithelial erosions, Alacrima, Decreased lacrimation, Lacrimal gland hypoplasia OMIM:103420
Corneal Dystrophy, Meesmann, 2
Recurrent corneal erosions, Epiphora OMIM:618767
Epithelial Recurrent Erosion Dystrophy
Epiphora, Corneal erosion OMIM:122400
Limbal Stem Cell Deficiency
Corneal perforation, Epiphora, Opacification of the corneal epithelium, Keratitis, Corneal scarri... ORPHA:171673
Alacrima, Congenital, Autosomal Recessive
Punctate corneal epithelial erosions, Alacrima OMIM:601549
Epithelial Recurrent Erosion Dystrophy
Epiphora, Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent cor... ORPHA:293381
Isolated Congenital Alacrima
Alacrima, Keratitis, Lacrimal gland hypoplasia, Conjunctivitis, Corneal erosion ORPHA:91416
Corneal Dystrophy, Posterior Polymorphous, 1
Epiphora, Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning o... OMIM:122000
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Conjunctival dermolipoma, Corneal... OMIM:180550
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Epiphora, Corneal neovascularization, Subepithelial corneal opacities, ... ORPHA:98957
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Decreased lacrimation, Corneal ulceration OMIM:616488
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Epiphora, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetif... ORPHA:137599
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Alacrima OMIM:240000
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Lacrimation abnormality, Recurrent corneal er... ORPHA:137596
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Alacrima, Anisocoria OMIM:300858
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Vernal Keratoconjunctivitis
Keratoconus, Epiphora, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovasculariz... ORPHA:70476
Dacryocystitis-Osteopoikilosis Syndrome
Lacrimation abnormality ORPHA:1562
Marsili Syndrome
Lacrimation abnormality, Corneal scarring OMIM:147430
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Keratoconus, Decreased lacrimation OMIM:242150
Lacrimal Duct Defect
Dacryocystocele, Conjunctivitis, Epiphora OMIM:149700
Paroxysmal Extreme Pain Disorder
Lacrimation abnormality OMIM:167400
Keratosis Pilaris Atrophicans
Epiphora OMIM:604093
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Lacrimation abnormality ORPHA:1484
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Alacrima OMIM:608088
Hydroa Vacciniforme
Epiphora, Keratitis ORPHA:330058
Intellectual Disability-Alacrima-Achalasia Syndrome
Alacrima, Anisocoria ORPHA:289483
Classic Progressive Supranuclear Palsy Syndrome
Conjunctival hyperemia, Decreased lacrimation ORPHA:240071
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation, Decreased response to growth hormone stimulation test OMIM:615925
Lacrimoauriculodentodigital Syndrome 2
Conjunctivitis, Alacrima OMIM:620192
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Conjunctivitis, Lacrimal duct stenosis, Alacrima OMIM:615560
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Cockayne Syndrome Type 1
Conjunctivitis, Decreased lacrimation, Cryptorchidism, Cataract ORPHA:90321
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Lacrimation abnormality ORPHA:1135
Familial Dysautonomia
Alacrima, Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Corneal erosion ORPHA:1764
Frontonasal Dysplasia 2
Decreased lacrimation, Bilateral cryptorchidism OMIM:613451
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Lacrimation abnormality ORPHA:1882
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Heterochromia iridis, Alacrima, Decreased lacrimation, Cryptorchidism OMIM:609136
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent corneal erosions, Alacrima, Corneal ulceration OMIM:223900
Glucocorticoid Deficiency 2
Alacrima, Bilateral cryptorchidism OMIM:607398
Blepharonasofacial Malformation Syndrome
Lacrimation abnormality, Cryptorchidism ORPHA:1252
Sunct Syndrome
Conjunctival hyperemia, Increased tear production, Epiphora ORPHA:57145
Nasolacrimal Duct Cyst
Epiphora, Chronic irritative conjunctivitis, Dacryocystocele, Corneal astigmatism, Nasolacrimal d... ORPHA:141083
Stuve-Wiedemann Syndrome 1
Decreased lacrimation, Opacification of the corneal stroma OMIM:601559
Paroxysmal Hemicrania
Conjunctival hyperemia, Epiphora ORPHA:157835
Graft Versus Host Disease
Decreased lacrimation ORPHA:39812
Cockayne Syndrome
Lentiglobus, Cataract, Alacrima, Band keratopathy, Abnormal cornea morphology, Cryptorchidism, Ke... ORPHA:191
Achalasia-Addisonianism-Alacrima Syndrome
Alacrima, Anisocoria OMIM:231550
Trisomy 8P
Annular pancreas, Astigmatism, Cryptorchidism, Heterochromia iridis, Aplasia/Hypoplasia of the ga... ORPHA:264450
Cockayne Syndrome B
Microcornea, Hypoplasia of the iris, Opacification of the corneal stroma, Cryptorchidism, Develop... OMIM:133540
Focal Facial Dermal Dysplasia Type Iii
Lacrimation abnormality ORPHA:1807
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal scarring, Decreased lacrimation, Corneal neovascularization ORPHA:404454
Lacrimoauriculodentodigital Syndrome 3
Alacrima OMIM:620193
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Epiphora OMIM:167730
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Streak ovary, Polycyst... ORPHA:572333
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Cockayne Syndrome A
Cataract, Decreased lacrimation, Cryptorchidism, Opacification of the corneal stroma OMIM:216400
Persistent Hyperplastic Primary Vitreous
Cataract, Epiphora, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental catarac... ORPHA:91495
Helix Syndrome
Hyperparathyroidism, Alacrima OMIM:617671
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conjunctivitis, Alacrima, Supernumerary nipple OMIM:106260
Kilquist Syndrome
Alacrima OMIM:619080
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Alacrima OMIM:614653
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Alacrima, Astigmatism OMIM:618548
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Alacrima, Anisocoria OMIM:615510
Chondroectodermal Dysplasia With Night Blindness
Epiphora ORPHA:319195
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Heterochromia iridis, Decreased lacrimation ORPHA:163746
Branchiootorenal Syndrome 1
Lacrimation abnormality, Lacrimal duct stenosis, Gustatory lacrimation, Euthyroid goiter OMIM:113650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cataract, Alacrima OMIM:615356
Waardenburg Syndrome Type 1
Lacrimation abnormality, Heterochromia iridis ORPHA:894
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Epiphora, Corneal opacity ORPHA:2399
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Failure to thrive, Decreased response to growth hormone stimulation test, Panhypopituitarism, Asp... OMIM:618922
Achalasia, Familial Esophageal
Xerostomia, Achalasia OMIM:200400
Congenital Disorder Of Deglycosylation 1
Alacrima, Corneal ulceration, Corneal opacity OMIM:615273
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Alacrima, Cryptorchidism OMIM:619005
Mucoepithelial Dysplasia, Hereditary
Cataract, Epiphora, Corneal neovascularization, Keratoconjunctivitis, Opacification of the cornea... OMIM:158310
Deeah Syndrome
Alacrima, Decreased response to growth hormone stimulation test, Panhypopituitarism, Cryptorchidi... OMIM:619004
Erythermalgia, Primary
Diarrhea, Xerostomia, Hyperhidrosis, Constipation OMIM:133020
Obesity-Hypoventilation Syndrome
Obesity, Hypoventilation OMIM:257500
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:293987
Hyperostosis Cranialis Interna
Epiphora OMIM:144755
Cleft Larynx, Posterior
Aspiration OMIM:215800
Cone-Rod Dystrophy 10
Epiphora OMIM:610283
Acrocraniofacial Dysostosis
Lacrimation abnormality ORPHA:949
Dyskeratosis Congenita, Autosomal Recessive 1
Pterygium, Epiphora, Nasolacrimal duct obstruction OMIM:224230
Lacrimoauriculodentodigital Syndrome 1
Nasolacrimal duct obstruction, Corneal perforation, Alacrima, Lacrimal gland hypoplasia, Limbal s... OMIM:149730
Waardenburg Syndrome
Lacrimation abnormality, Heterochromia iridis ORPHA:3440
Laryngotracheoesophageal Cleft
Aspiration, Impaired oropharyngeal swallow response ORPHA:2004
Congenital Disorder Of Glycosylation, Type Im
Vomiting, Diarrhea, Aspiration, Failure to thrive OMIM:610768
Cone-Rod Dystrophy 8
Epiphora OMIM:605549
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Lacrimation abnormality ORPHA:2916
Johanson-Blizzard Syndrome
Lacrimation abnormality ORPHA:2315
Carcinoid Syndrome
Epiphora ORPHA:100093
Sjogren Syndrome
Xerostomia OMIM:270150
Intestinal Botulism
Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Postorgasmic Illness Syndrome
Xerostomia, Hyperhidrosis ORPHA:279947
Developmental And Epileptic Encephalopathy 38
Gastroesophageal reflux, Aspiration OMIM:617020
Pontine Tegmental Cap Dysplasia
Dysphagia, Aspiration, Failure to thrive OMIM:614688
Dyskeratosis Congenita, Autosomal Recessive 6
Epiphora OMIM:616353
Eec Syndrome
Keratitis, Decreased response to growth hormone stimulation test, Lacrimation abnormality, Hypopl... ORPHA:1896
Schinzel-Giedion Syndrome
Alacrima, Streak ovary, Annular pancreas ORPHA:798
Adiposis Dolorosa
Diarrhea, Xerostomia, Obesity, Hypothyroidism, Constipation ORPHA:36397
Alternating Hemiplegia Of Childhood
Diarrhea, Vomiting, Failure to thrive, Oral-pharyngeal dysphagia, Constipation, Dysphagia, Hyperh... ORPHA:2131
Yao Syndrome
Diarrhea, Weight loss, Xerostomia OMIM:617321
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Gastroesophageal reflux, Vomiting, Failure to thrive, Decreased response to growth hormone stimul... ORPHA:96182
Iatrogenic Botulism
Constipation, Xerostomia, Dysphagia ORPHA:254509
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Gastroesophageal reflux, Hypoventilation, Decreased body weight, Dysphagia, Cerebral edema, Aspir... ORPHA:258
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hyperparathyroidism, Cataract, Abnormal pupil morphology, Cryptorchidism, Lacrimatio... ORPHA:534
Halperin-Birk Syndrome
Gastroesophageal reflux, Aspiration, Failure to thrive, Pseudobulbar paralysis OMIM:618651
Inhalational Botulism
Diarrhea, Xerostomia, Constipation ORPHA:254504
Amyotrophic Lateral Sclerosis 21
Aspiration, Dysphagia OMIM:606070
Vocal Cord And Pharyngeal Distal Myopathy
Aspiration, Dysphagia ORPHA:600
Diarrhea, Xerostomia, Dysphagia, Constipation ORPHA:1267
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Diarrhea, Xerostomia, Vomiting, Cachexia OMIM:175500
Prune Belly Syndrome
Oligohydramnios, Xerostomia OMIM:100100
Lacrimoauriculodentodigital Syndrome
Epiphora, Cryptorchidism, Limbal stem cell deficiency, Corneal neovascularization, Recurrent corn... ORPHA:2363
Tay-Sachs Disease
Aspiration OMIM:272800
Spinocerebellar Ataxia Type 8
Aspiration, Dysphagia ORPHA:98760
Hyperekplexia 1
Aspiration OMIM:149400
Dyskeratosis Congenita, Digenic
Decreased testicular size, Epiphora OMIM:620040
Foodborne Botulism
Diarrhea, Xerostomia, Dysphagia, Constipation ORPHA:228371
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration, Dysphagia ORPHA:2148
Esophageal Atresia
Gastroesophageal reflux, Vomiting, Failure to thrive in infancy, Esophagitis, Dysphagia, Polyhydr... ORPHA:1199
Dyskeratosis Congenita, Autosomal Dominant 3
Epiphora, Cryptorchidism OMIM:613990
Burning Mouth Syndrome
Xerostomia ORPHA:353253
Rett Syndrome, Congenital Variant
Gastroesophageal reflux, Aspiration, Constipation OMIM:613454
Reynolds Syndrome
Ascites, Gastroesophageal reflux, Xerostomia, Dysphagia ORPHA:779
Williams Syndrome
Cataract, Cholelithiasis, Megalocornea, Cryptorchidism, Aplasia/Hypoplasia of the iris, Polycysti... ORPHA:904
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Aplasia Of Lacrimal And Salivary Glands
Xerostomia OMIM:180920
Infant Botulism
Constipation, Xerostomia, Dysphagia, Bowel incontinence ORPHA:178478
Dyskeratosis Congenita, X-Linked
Cataract, Epiphora, Pterygium, Decreased testicular size, Cryptorchidism, Conjunctivitis OMIM:305000
Charge Syndrome
Anterior hypopituitarism, Iris coloboma, Cryptorchidism, Lacrimation abnormality ORPHA:138
Opitz Gbbb Syndrome
Gastroesophageal reflux, Aspiration, Dysphagia OMIM:300000
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal salivary gland morphology, Epiphora OMIM:181000
Amoebiasis Due To Free-Living Amoebae
Conjunctival hyperemia, Increased tear production, Corneal perforation, Corneal ulceration ORPHA:68
Oculopharyngodistal Myopathy 1
Weight loss, Aspiration, Dysphagia OMIM:164310
Adnp Syndrome
Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia, Chronic constipation, Truncal obesi... ORPHA:404448
Stüve-Wiedemann Syndrome
Lacrimation abnormality, Ectopic thyroid ORPHA:3206
Neuromuscular Oculoauditory Syndrome
Aspiration OMIM:618733
Developmental And Epileptic Encephalopathy 100
Gastroesophageal reflux, Aspiration, Dysphagia, Chronic constipation OMIM:619777
Lambert-Eaton Myasthenic Syndrome
Hypohidrosis, Xerostomia, Constipation ORPHA:43393
Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Xerostomia, Failure to thrive ORPHA:238468
Ogden Syndrome
Diarrhea, Vomiting, Lymphedema, Oligohydramnios, Pulmonary edema, Dysphagia, Aspiration OMIM:300855
Bilateral Perisylvian Polymicrogyria
Gastroesophageal reflux, Aspiration, Dysphagia, Pseudobulbar paralysis ORPHA:98889
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Xerostomia, Anhidrosis OMIM:614941
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Symblepharon, Keratitis, Increased tear production, Chemosis, Conjunctival hyperemia, Keratoconju... ORPHA:95455
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Failure to thrive, Decreased response to growth hormone stimulation test, Oligohyd... OMIM:619503
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Gastroesophageal reflux, Failure to thrive, Obesity, Constipation, Polyhydramnios, Aspiration ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Gastroesophageal reflux, Failure to thrive, Obesity, Constipation, Polyhydramnios, Aspiration ORPHA:353277
Igg4-Related Dacryoadenitis And Sialadenitis
Facial edema, Xerostomia, Weight loss, Palpebral edema, Thyroiditis ORPHA:79078
Igg4-Related Submandibular Gland Disease
Periorbital edema, Prostatitis, Xerostomia, Facial edema ORPHA:449432
Acrofacial Dysostosis, Cincinnati Type
Dysphagia, Aspiration, Failure to thrive, Decreased body weight OMIM:616462
Diffuse Palmoplantar Keratoderma, Bothnian Type
Palmoplantar Keratoderma, Bothnian Type


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 Aqp5

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 Aqp5.

No publications found that use IMPC mice or data for Aqp5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Aqp5tm1aNarl KO first allele (reporter-tagged insertion with conditional potential) Mice, ES Cells
Aqp5em3(IMPC)H Intra-exon deletion Mice
Aqp5em2(IMPC)H Intra-exon deletion Mice

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