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

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