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Gene: Gjb2 MGI:95720

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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:
gap junction protein, beta 2
Synonyms:
connexin 26,  Cx26,  Gjb-2

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 Gjb2 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 Gjb2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Kid Syndrome
Postnatal growth retardation ORPHA:477
Palmoplantar Keratoderma-Deafness Syndrome
ORPHA:2202
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
OMIM:148210
Bart-Pumphrey Syndrome
OMIM:149200
Ichthyosis, Hystrix-Like, With Deafness
OMIM:602540
Vohwinkel Syndrome
OMIM:124500
Deafness, Autosomal Dominant 3A
OMIM:601544
Keratoderma Hereditarium Mutilans
ORPHA:494
Keratoderma, Palmoplantar, With Deafness
OMIM:148350
Deafness, Autosomal Recessive 1A
OMIM:220290
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
ORPHA:2698

The table below shows human diseases predicted to be associated to Gjb2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Lymphatic Malformation 2
Lymphedema OMIM:611944
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Lymphatic Malformation 9
Tortuous lymphatic vessels, Predominantly lower limb lymphedema OMIM:619319
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal ... ORPHA:568051
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Intrauterine growth retardation, Short stature OMIM:135950
Lymphatic Malformation 3
Lymphedema OMIM:613480
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema, Hypoplasia of lymphatic vessels OMIM:153300
Lymphatic Malformation 5
Facial edema, Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels OMIM:153200
Lipedema
Edema OMIM:614103
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Lymphatic Malformation 1
Nonimmune hydrops fetalis, Prominent superficial veins, Hyperkeratosis over edematous areas, Hypo... OMIM:153100
Lymphatic Malformation 10
Lymphedema OMIM:619369
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis OMIM:606690
Follicular Lymphoma
Lymphadenopathy, Lymphedema, Mediastinal lymphadenopathy, Pleural effusion, Splenomegaly ORPHA:545
Chylous Ascites
Lymphedema, Ascites ORPHA:1160
Meige Disease
Edema of the dorsum of hands, Periorbital edema, Facial edema, Laryngeal edema, Pedal edema, Vari... ORPHA:90186
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pulmonary lymphangiectasia, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Lymphedema OMIM:616006
Lymphatic Malformation 4
Lymphedema, Pedal edema OMIM:615907
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Facial edema, Pulmonary edema, L... OMIM:617300
Hydrops Fetalis
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Pericardial effusion, Lymphedema, Ab... ORPHA:1041
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Polyhydramnios, Fetal ascites, Neonatal death, Lymphedema OMIM:620014
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Generalized edema, Edema, Polyhydramnios, Periorbital edema, Facial ed... OMIM:616843
Lissencephaly 2
Lymphedema OMIM:257320
Lissencephaly 7 With Cerebellar Hypoplasia
Lymphedema, Micrognathia, Neonatal death OMIM:616342
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... OMIM:618773
Dohle Bodies And Leukemia
Lymphedema OMIM:223350
Lymphangiectasia, Intestinal
Stillbirth, Intestinal lymphangiectasia, Pedal edema, Edema OMIM:152800
Cholestasis-Lymphedema Syndrome
Lymphedema, Splenomegaly OMIM:214900
Primary Intestinal Lymphangiectasia
Edema, Abnormal lymphatic vessel morphology, Pericardial effusion, Pleural effusion, Intestinal l... ORPHA:90362
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Pleural effusion, Hydrops fetalis, Palpebral edema, Abnormality of the lymphatic system, Predomin... ORPHA:69735
Yellow Nail Syndrome
Sinusitis, Lymphedema, Hypoplasia of lymphatic vessels ORPHA:662
Milroy Disease
Varicose veins, Lymphedema, Abnormal venous morphology, Predominantly lower limb lymphedema, Peda... ORPHA:79452
Kaposi Sarcoma
Generalized lymphadenopathy, Venous insufficiency, Lymphedema, Abnormality of the spleen ORPHA:33276
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Nonimmune hydrops fetalis, Retrognathia, Conical incisor, Malar flattening, Pleural lymphangiecta... OMIM:235510
Melorheostosis
Peripheral arteriovenous fistula, Lymphedema ORPHA:2485
Greenberg Dysplasia
Lymphedema, Micrognathia ORPHA:1426
Campomelia, Cumming Type
Lymphedema, Polysplenia OMIM:211890
Chromomycosis
Predominantly lower limb lymphedema, Edema, Lymphedema, Lymphangiectasis ORPHA:182
Cholestasis-Lymphedema Syndrome
Abnormality of the lymphatic system, Lymphedema, Splenomegaly ORPHA:1414
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Malar flattening, Polyhydramnios, Thyroid lymphangiectasia, Lymphedem... OMIM:235255
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Generalized edema, Abnormal paranasal sinus morphology OMIM:207731
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy, Lymphedema OMIM:607115
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Lymphedema OMIM:247410
Lymphangiectasia, Pulmonary, Congenital
Nonimmune hydrops fetalis, Chylous ascites, Edema, Malar flattening, Polyhydramnios, Facial edema... OMIM:265300
Lymphedema, Primary, With Myelodysplasia
Lymphedema OMIM:614038
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrops fetalis, Overriding aorta, Lymphedema, Oligohydramnios, Patent ductus arteriosus, Vascula... OMIM:601927
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema, Venous malformation, Varicose veins OMIM:613089
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Epidural hemorrhage, Pleural effusion, Abnormal spleen morphology, Abnormal l... ORPHA:464329
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema OMIM:618154
Klippel-Trenaunay-Weber Syndrome
Lymphedema, Arteriovenous fistula, Lymphangioma OMIM:149000
German Syndrome
Lymphedema, Micrognathia, Tetralogy of Fallot ORPHA:2077
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Lymphadenopathy, Splenomegaly, Lymphedema ORPHA:3226
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Nonimmune hydrops fetalis, Mandibular prognathia, Palpebral edema, Lymphedema, Pulmonary lymphang... OMIM:137940
Congenital Disorder Of Glycosylation, Type Ib
Edema, Lymphangiectasis OMIM:602579
Parkes Weber Syndrome
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Arteriovenous malformation, Arterioven... ORPHA:90307
Mucopolysaccharidosis Type 7
Hydrops fetalis, Arteriovenous malformation, Umbilical hernia, Lymphedema, Splenomegaly, Ascites ORPHA:584
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Arteriovenous malformation, Arteriov... ORPHA:137667
Al-Gazali-Bakalinova Syndrome
Malar flattening, Lymphedema OMIM:607131
Clapo Syndrome
Varicose veins, Lymphedema, Venous malformation, Lymphangioma ORPHA:168984
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphedema ORPHA:1116
Lymphedema-Distichiasis Syndrome
Nonimmune hydrops fetalis, Tetralogy of Fallot, Predominantly lower limb lymphedema, Varicose vei... OMIM:153400
Cantu Syndrome
Umbilical hernia, Lymphedema, Pericardial effusion, Patent ductus arteriosus OMIM:239850
Monosomy 18P
Lymphedema, Carious teeth, Micrognathia ORPHA:1598
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema ORPHA:3137
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema ORPHA:79279
Hennekam Syndrome
Retrognathia, Arteriovenous malformation, Hydrops fetalis, Supernumerary tooth, Lymphadenopathy, ... ORPHA:2136
Cronkhite-Canada Syndrome
Lymphedema, Splenomegaly ORPHA:2930
Tenosynovial Giant Cell Tumor
Lymphedema, Joint swelling ORPHA:66627
Lymphatic Filariasis
Lymphadenitis, Lymphangiectasis, Lymphadenopathy, Lymphedema, Abnormality of the lymphatic system... ORPHA:2035
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Lymphedema OMIM:152950
Ring Chromosome 22 Syndrome
Pleural effusion, Lymphedema, Edema ORPHA:1446
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema ORPHA:261519
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema OMIM:607823
Non Rare In Europe: Buschke-Ollendorff Syndrome
Abnormal aortic morphology, Lymphedema ORPHA:1306
Noonan Syndrome 13
Lymphedema, Micrognathia OMIM:619087
Distal Xq28 Microduplication Syndrome
Upper eyelid edema, Predominantly lower limb lymphedema, Patent ductus arteriosus, Hypoplasia of ... ORPHA:293939
Campomelia, Cumming Type
Lymphedema, Oligohydramnios, Hydrops fetalis ORPHA:1318
Phelan-Mcdermid Syndrome
Malar flattening, Palpebral edema, Dental malocclusion, Lymphedema, Patent ductus arteriosus, Mic... OMIM:606232
Familial Exudative Vitreoretinopathy
Lymphedema, Macular edema ORPHA:891
Dahlberg-Borer-Newcomer Syndrome
Lymphedema ORPHA:1563
Lymphangioleiomyomatosis
Chylopericardium, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Lymphedema, Abnormality of the... ORPHA:538
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Lymphedema ORPHA:2176
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Neonatal death, Lymphedema, Patent ductus arteriosus, Ascites OMIM:620244
Takenouchi-Kosaki Syndrome
Dental malocclusion, Lymphedema, Patent ductus arteriosus OMIM:616737
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Aortic aneurysm, Intracranial hemorrhage, Lymphedema, Micrognathia ORPHA:109
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Hepatosplenomegaly, Retrognathia, Polyhydramnios, Splenomegaly, Lymphedema, Chylothorax OMIM:613563
Ectodermal Dysplasia And Immunodeficiency 1
Lymphedema, Conical incisor OMIM:300291
Cerebrofacioarticular Syndrome
Lymphedema, Micrognathia, Hypoplasia of the maxilla ORPHA:314679
Fabry Disease
Transient ischemic attack, Lymphedema OMIM:301500
Noonan Syndrome
Lymphedema, Abnormality of the spleen, Micrognathia, Abnormality of the lymphatic system, Pulmona... ORPHA:648
Secondary Intestinal Lymphangiectasia
Chylous ascites, Anasarca, Edema, Intestinal lymphedema, Lymphedema, Pleural effusion ORPHA:90363
Oculoectodermal Syndrome
Coarctation of aorta, Giant cell granuloma of mandible, Transient ischemic attack, Lymphedema, Pa... OMIM:600268
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Total anomalous pulmonary venous return, Dental malocclusion, Lymphedema, Patent ductus arteriosu... ORPHA:487796
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Patent ductus arteriosus, Varicose veins ORPHA:33001
Kasabach-Merritt Syndrome
Abnormal lymphatic vessel morphology ORPHA:2330
Cardiofaciocutaneous Syndrome
Hypoplasia of the zygomatic bone, Lymphedema ORPHA:1340
Phakomatosis Pigmentokeratotica
Lymphedema, Spina bifida ORPHA:2874
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Prominent scalp veins, Ascending tubular aorta aneury... ORPHA:536471
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Polyhydramnios, Pancreatic lymphangiectasis, Micrognathia, Pulmonary lymphang... ORPHA:1655
Autosomal Recessive Spastic Paraplegia Type 11
Lymphedema ORPHA:2822
Ogden Syndrome
Umbilical hernia, Peripheral pulmonary artery stenosis, Micrognathia, Pulmonary edema, Microretro... OMIM:300855
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal lymphangiectasia, Generalized edema, Edema, Ascites OMIM:226300
Costello Syndrome
Polyhydramnios, Lymphangiectasis, Micrognathia OMIM:218040
Schneckenbecken Dysplasia
Malar flattening, Polyhydramnios, Lymphedema ORPHA:3144
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Pleural effusion, Lymphedema, Chylothorax, Edema ORPHA:2526
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Predominantly lower limb lymphedema OMIM:604121
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Angioosteohypertrophic Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Lymphedema ORPHA:2346
Proteus Syndrome
Sirenomelia, Arteriovenous malformation, Neoplasm of the thymus, Abnormal dental enamel morpholog... ORPHA:744
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lymphedema ORPHA:79280
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary artery dilatation, Nonimmune hydrops fetalis, Coarctation of aorta, Retrognathia, Asple... OMIM:265380
Noonan Syndrome 1
Coarctation of aorta, Dental malocclusion, Lymphedema, Patent ductus arteriosus, Micrognathia, Ch... OMIM:163950
Monosomy 22Q13.3
Malar flattening, Umbilical hernia, Palpebral edema, Dental malocclusion, Lymphedema ORPHA:48652
Turner Syndrome Due To Structural X Chromosome Anomalies
Coarctation of aorta, Retrognathia, Aortic arch aneurysm, Aplasia/Hypoplasia of the mandible, Art... ORPHA:99413
Turner Syndrome
Coarctation of aorta, Retrognathia, Aortic arch aneurysm, Aplasia/Hypoplasia of the mandible, Art... ORPHA:881
Mosaic Monosomy X
Coarctation of aorta, Retrognathia, Aortic arch aneurysm, Aplasia/Hypoplasia of the mandible, Art... ORPHA:99228
Monosomy X
Coarctation of aorta, Retrognathia, Aortic arch aneurysm, Aplasia/Hypoplasia of the mandible, Art... ORPHA:99226
Spondyloocular Syndrome
Lymphedema OMIM:605822
Fabry Disease
Transient ischemic attack, Lymphedema ORPHA:324
Kanzaki Disease
Lacunar stroke, Lymphedema OMIM:609242
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Predominantly lower limb lymphedema ORPHA:314404
Pmm2-Cdg
Retrognathia, Anasarca, Intracranial hemorrhage, Mandibular prognathia, Pericardial effusion, Lym... ORPHA:79318
Tuberous Sclerosis 1
Pulmonary lymphangiomyomatosis, Dental enamel pits OMIM:191100
Holoprosencephaly 2
Malar flattening, Aplasia of the premaxilla OMIM:157170
Branchiooculofacial Syndrome
Cleft of chin, Malar flattening, Ectopic thymus tissue, Micrognathia, Branchial anomaly OMIM:113620
Tuberous Sclerosis 2
Pulmonary lymphangiomyomatosis OMIM:613254
Saethre-Chotzen Syndrome
Malar flattening, Cleft of chin, Hypoplasia of the maxilla OMIM:101400
Tuberous Sclerosis Complex
Aortic aneurysm, Pulmonary lymphangiomyomatosis ORPHA:805
Kid Syndrome
Postnatal growth retardation ORPHA:477
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
ORPHA:2698
Ichthyosis, Hystrix-Like, With Deafness
OMIM:602540
Palmoplantar Keratoderma-Deafness Syndrome
ORPHA:2202
Vohwinkel Syndrome
OMIM:124500
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
OMIM:148210
Deafness, Autosomal Dominant 3A
OMIM:601544
Bart-Pumphrey Syndrome
OMIM:149200
Keratoderma, Palmoplantar, With Deafness
OMIM:148350
Keratoderma Hereditarium Mutilans
ORPHA:494
Deafness, Autosomal Recessive 1A
OMIM:220290

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 Gjb2

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 Gjb2.

No publications found that use IMPC mice or data for Gjb2.

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MGI Allele Allele Type Produced
Gjb2tm366298(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Gjb2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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