Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
gap junction protein, alpha 3
Synonyms:
connexin 46,  alpha 3 connexin,  Gja-3,  Cx46

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 Gja3 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 Gja3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 14, Multiple Types
Zonular cataract OMIM:601885

The table below shows human diseases predicted to be associated to Gja3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract 41
Developmental cataract, Nuclear cataract OMIM:116400
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Aniridia 3
Cataract OMIM:617142
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Cataract 30, Multiple Types
Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract OMIM:116300
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Trichomegaly
Cataract OMIM:190330
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 2, Multiple Types
Developmental cataract, Microcornea, Nuclear cataract OMIM:604307
Cataract 7
Developmental cataract OMIM:115660
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Iris coloboma, Cerulean cataract OMIM:610202
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Galactosemia Iv
Cataract OMIM:618881
Nathalie Syndrome
Cataract ORPHA:2663
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Retinal Dystrophy With Or Without Macular Staphyloma
Nuclear cataract OMIM:617547
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Dwarfism, Mental Retardation, And Eye Abnormality
Hypoplasia of the iris, Nuclear cataract OMIM:223540
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Cataract 42
Developmental cataract OMIM:115900
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Galactosemia Ii
Cataract OMIM:230200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
X-Linked Retinoschisis
Cataract ORPHA:792
Cataract 47
Cataract, Microcornea OMIM:612018
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Aniridia 2
Cataract, Aniridia OMIM:617141
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cahmr Syndrome
Lamellar cataract OMIM:211770
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract 43
Subcapsular cataract OMIM:616279
Nathalie Syndrome
Cataract OMIM:255990
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Cerulean cataract OMIM:616732
Dermoids Of Cornea
Corneal opacity OMIM:304730
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Cataract 11, Multiple Types
Cataract OMIM:610623
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Retinitis Pigmentosa 84
Cataract OMIM:618220
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Dysequilibrium Syndrome
Cataract ORPHA:1766
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract OMIM:613581
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nuclear cataract ORPHA:280914
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Alg8-Cdg
Cataract ORPHA:79325
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Ciliary body melanoma, Zonular cataract, Iris melanoma ORPHA:39044
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract OMIM:246000
Coats Disease
Abnormal anterior chamber morphology, Cataract, Aplasia/Hypoplasia of the iris ORPHA:190
Pellagra-Like Syndrome
Cataract OMIM:260650
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Galactokinase Deficiency
Cataract, Nuclear cataract ORPHA:79237
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Isolated Aniridia
Aniridia, Peters anomaly, Cataract ORPHA:250923
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Congenital Varicella Syndrome
Cataract ORPHA:291
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy OMIM:604278
Cataract 24
Anterior polar cataract OMIM:601202
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:116600
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract OMIM:615418
Retinitis Pigmentosa 4
Cataract OMIM:613731
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Xeroderma Pigmentosum, Complementation Group G
Cataract OMIM:278780
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Retinitis Pigmentosa 2
Cataract OMIM:312600
Leber Congenital Amaurosis 16
Cataract OMIM:614186
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract ORPHA:85288
Retinitis Pigmentosa 86
Cortical cataract OMIM:618613
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea ORPHA:2528
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Supernumerary Nostril
Developmental cataract, Microcornea ORPHA:141096
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
Retinitis Pigmentosa 9
Cataract OMIM:180104
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract OMIM:608763
Retinitis Pigmentosa 37
Cataract OMIM:611131
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract ORPHA:2489
Mevalonic Aciduria
Cataract, Nuclear cataract OMIM:610377
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma OMIM:212550
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract ORPHA:1875
Wagner Vitreoretinopathy
Cataract OMIM:143200
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Galactose Epimerase Deficiency
Cataract ORPHA:79238
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract OMIM:257790
Coloboma, Ocular, Autosomal Recessive
Cataract, Iris coloboma, Lens subluxation OMIM:216820
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea OMIM:616171
Arthrogryposis And Ectodermal Dysplasia
Nuclear cataract OMIM:601701
Achromatopsia 3
Cataract OMIM:262300
Combined Oxidative Phosphorylation Deficiency 31
Cataract OMIM:617228
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Nance-Horan Syndrome
Developmental cataract, Microcornea, Posterior Y-sutural cataract OMIM:302350
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Vitreoretinochoroidopathy
Microcornea, Pulverulent cataract OMIM:193220
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract OMIM:613154
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Usher Syndrome Type 3
Iris hypopigmentation, Astigmatism, Cataract ORPHA:231183
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Microphakia, Lens subluxation ORPHA:171844
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract ORPHA:67048
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract OMIM:615352
Norrie Disease
Hypoplasia of the iris, Cataract, Shallow anterior chamber, Opacification of the corneal stroma OMIM:310600
Hemochromatosis, Type 4
Cataract OMIM:606069
Neurofibromatosis, Type Ii
Juvenile posterior subcapsular lenticular opacities, Cortical cataract OMIM:101000
Peroxisome Biogenesis Disorder 9B
Cataract OMIM:614879
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract OMIM:127200
Myopathy, Myofibrillar, 2
Cataract OMIM:608810
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Retinopathy, Pigmentary, And Mental Retardation
Cataract OMIM:268050
Cone-Rod Dystrophy 16
Cataract OMIM:614500
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract OMIM:613730
Stiff Skin Syndrome
Cataract OMIM:184900
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract ORPHA:1345
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cataract OMIM:609313
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Zonular cataract ORPHA:168577
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Trichothiodystrophy 3, Photosensitive
Cataract OMIM:616395
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract OMIM:132450
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract ORPHA:2410
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract OMIM:615704
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract OMIM:601794
Dystonia, Juvenile-Onset
Cataract OMIM:607371
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract ORPHA:363741
Monilethrix
Cataract ORPHA:573
Joubert Syndrome 9
Cataract, Astigmatism OMIM:612285
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract OMIM:302950
Rothmund-Thomson Syndrome, Type 2
Cataract, Microcornea, Zonular cataract OMIM:268400
Autosomal Dominant Optic Atrophy And Cataract
Anterior cortical cataract, Anterior subcapsular cataract, Posterior cortical cataract, Cerulean ... ORPHA:67036
Premature Aging Syndrome, Okamoto Type
Cataract OMIM:601811
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract ORPHA:414
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Subcapsular cataract OMIM:600907
Ifap Syndrome 2
Cataract, Keratoconjunctivitis sicca, Keratitis OMIM:619016
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Iris coloboma, ... OMIM:221900
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Cataract, Developmental cataract ORPHA:436174
Nance-Horan Syndrome
Cataract, Microcornea ORPHA:627
Retinitis Pigmentosa 74
Posterior polar cataract OMIM:616562
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Conjunctivitis, Keratitis, Cataract OMIM:612843
Hereditary Mucoepithelial Dysplasia
Cataract, Corneal dystrophy ORPHA:1839
Familial Isolated Hypoparathyroidism
Cataract ORPHA:2238
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... OMIM:106210
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Microcornea, Sclerocornea, Corneal dystrophy ORPHA:1806
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Iris coloboma, Sclerocornea ORPHA:139471
Vogt-Koyanagi-Harada Disease
Cataract ORPHA:3437
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Anterior chamber synechiae, Band keratopathy ORPHA:85410
Craniolenticulosutural Dysplasia
Punctate cataract, Sutural cataract OMIM:607812
Neurofibromatosis Type 2
Posterior subcapsular cataract, Cortical cataract ORPHA:637
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract ORPHA:50814
Werner Syndrome
Cataract OMIM:277700
Mietens Syndrome
Cataract, Microcornea, Corneal opacity, Sclerocornea ORPHA:2557
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Xeroderma Pigmentosum, Complementation Group D
Cataract, Conjunctivitis, Keratoconjunctivitis sicca, Keratitis, Corneal neovascularization OMIM:278730
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Cataract, Microcornea OMIM:608279
Leiomyomatosis, Diffuse, With Alport Syndrome
Cataract, Lenticonus, Anterior lenticonus OMIM:308940
Microphthalmia, Syndromic 5
Cataract, Microcornea OMIM:610125
Idiopathic Panuveitis
Posterior synechiae of the anterior chamber, Cataract, Conjunctival hyperemia ORPHA:280921
Intermediate Uveitis
Posterior synechiae of the anterior chamber, Cataract, Band keratopathy ORPHA:279914
Chondrodysplasia Punctata, Autosomal Dominant
Cataract OMIM:118650
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Keratoconjunctivitis, Band keratopathy OMIM:269200
Osteoporosis-Pseudoglioma Syndrome
Cataract, Iris atrophy, Absent anterior chamber of the eye OMIM:259770
Lowe Oculocerebrorenal Syndrome
Developmental cataract, Dense posterior cortical cataract OMIM:309000

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 Gja3

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 Gja3.

No publications found that use IMPC mice or data for Gja3.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Gja3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gja3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter