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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
Vohwinkel Syndrome
OMIM:124500
Ichthyosis, Hystrix-Like, With Deafness
OMIM:602540
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
OMIM:148210
Bart-Pumphrey Syndrome
OMIM:149200
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
Tortuous lymphatic vessels, Predominantly lower limb lymphedema OMIM:619319
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Venous insuffic... 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
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Lymphatic Malformation 5
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema 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
Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hypo... OMIM:153100
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis OMIM:606690
Follicular Lymphoma
Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleural effusion ORPHA:545
Chylous Ascites
Ascites, Lymphedema ORPHA:1160
Meige Disease
Predominantly lower limb lymphedema, Lymphedema, Absence of lymph node germinal center, Facial ed... ORPHA:90186
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Intestinal lymphangiectasia, Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Lymphedema OMIM:616006
Lymphatic Malformation 4
Pedal edema, Lymphedema OMIM:615907
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l... ORPHA:1041
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Neonatal death OMIM:620014
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Micrognathia, Facial edema, Splenomegaly, Lymphe... OMIM:616843
Lissencephaly 2
Lymphedema OMIM:257320
Dohle Bodies And Leukemia
Lymphedema OMIM:223350
Lissencephaly 7 With Cerebellar Hypoplasia
Lymphedema, Neonatal death, Micrognathia OMIM:616342
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Stillbirth, Edema, Pedal edema OMIM:152800
Cholestasis-Lymphedema Syndrome
Splenomegaly, Lymphedema OMIM:214900
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Pleural effusion, Intestinal l... ORPHA:90362
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the lymphatic system, Hydrop... ORPHA:69735
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Varicose veins, Abnormal venous mor... ORPHA:79452
Yellow Nail Syndrome
Sinusitis, Hypoplasia of lymphatic vessels, Lymphedema ORPHA:662
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Thyroid lymph... OMIM:235510
Kaposi Sarcoma
Venous insufficiency, Abnormality of the spleen, Generalized lymphadenopathy, Lymphedema ORPHA:33276
Melorheostosis
Peripheral arteriovenous fistula, Lymphedema ORPHA:2485
Greenberg Dysplasia
Lymphedema, Micrognathia ORPHA:1426
Chromomycosis
Predominantly lower limb lymphedema, Lymphangiectasis, Edema, Lymphedema ORPHA:182
Campomelia, Cumming Type
Polysplenia, Lymphedema OMIM:211890
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Micrognathia, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis... OMIM:235255
Cholestasis-Lymphedema Syndrome
Splenomegaly, Abnormality of the lymphatic system, Lymphedema ORPHA:1414
Cinca Syndrome
Lymphedema, Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Lymphedema OMIM:247410
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Generalized edema OMIM:207731
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Lymphedema, Patent ductus arteriosus, Hydrops fetalis, Vascular ring, Oligohydr... OMIM:601927
Lymphedema, Primary, With Myelodysplasia
Lymphedema OMIM:614038
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pericardial effusion, Splenomegaly, Abnormality of the lymphatic system, Hep... ORPHA:464329
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
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema OMIM:618154
German Syndrome
Lymphedema, Tetralogy of Fallot, Micrognathia ORPHA:2077
Klippel-Trenaunay-Weber Syndrome
Lymphangioma, Arteriovenous fistula, Lymphedema OMIM:149000
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Splenomegaly, Lymphedema, Lymphadenopathy ORPHA:3226
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Mandibular prognathia, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphang... OMIM:137940
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Edema OMIM:602579
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Mucopolysaccharidosis Type 7
Lymphedema, Splenomegaly, Hydrops fetalis, Arteriovenous malformation, Umbilical hernia, Ascites ORPHA:584
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Cerebral arteriovenous malformation,... ORPHA:137667
Al-Gazali-Bakalinova Syndrome
Malar flattening, Lymphedema OMIM:607131
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphedema ORPHA:1116
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Micrognathia, Lymphedema, Patent ... OMIM:153400
Clapo Syndrome
Lymphangioma, Varicose veins, Venous malformation, Lymphedema ORPHA:168984
Cantu Syndrome
Pericardial effusion, Umbilical hernia, Patent ductus arteriosus, Lymphedema OMIM:239850
Monosomy 18P
Carious teeth, Lymphedema, Micrognathia ORPHA:1598
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema ORPHA:3137
Cronkhite-Canada Syndrome
Splenomegaly, Lymphedema ORPHA:2930
Hennekam Syndrome
Delayed eruption of teeth, Lymphedema, Pericardial effusion, Splenomegaly, Supernumerary tooth, P... ORPHA:2136
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema ORPHA:79279
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphedema, Lymphadenitis, Abnormality of the lymphatic syst... ORPHA:2035
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Lymphedema OMIM:152950
Tenosynovial Giant Cell Tumor
Joint swelling, Lymphedema ORPHA:66627
Ring Chromosome 22 Syndrome
Pleural effusion, Edema, Lymphedema ORPHA:1446
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema ORPHA:261519
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema OMIM:607823
Noonan Syndrome 13
Lymphedema, Micrognathia OMIM:619087
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Patent ductus arteriosus, Predominantly lower limb lymphedema, Upper e... ORPHA:293939
Campomelia, Cumming Type
Oligohydramnios, Hydrops fetalis, Lymphedema ORPHA:1318
Phelan-Mcdermid Syndrome
Palpebral edema, Lymphedema, Micrognathia, Patent ductus arteriosus, Dental malocclusion, Malar f... OMIM:606232
Familial Exudative Vitreoretinopathy
Macular edema, Lymphedema ORPHA:891
Dahlberg-Borer-Newcomer Syndrome
Lymphedema ORPHA:1563
Lymphangioleiomyomatosis
Lymphedema, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Chylothorax, ... ORPHA:538
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Lymphedema ORPHA:2176
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Neonatal death, Ascites OMIM:620244
Takenouchi-Kosaki Syndrome
Patent ductus arteriosus, Dental malocclusion, Lymphedema OMIM:616737
Bannayan-Riley-Ruvalcaba Syndrome
Lymphedema, Micrognathia, Intracranial hemorrhage, Arteriovenous malformation, Aortic aneurysm ORPHA:109
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, Chylothorax, Retrognathia OMIM:613563
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Lymphedema OMIM:300291
Cerebrofacioarticular Syndrome
Hypoplasia of the maxilla, Lymphedema, Micrognathia ORPHA:314679
Fabry Disease
Transient ischemic attack, Lymphedema OMIM:301500
Noonan Syndrome
Lymphedema, Micrognathia, Abnormality of the spleen, Pulmonary artery stenosis, Abnormality of th... ORPHA:648
Secondary Intestinal Lymphangiectasia
Intestinal lymphedema, Edema, Lymphedema, Chylous ascites, Anasarca, Pleural effusion ORPHA:90363
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Transient ischemic attack, Lymphedema, Patent ductus arteriosus... OMIM:600268
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Lymphedema, Patent ductus arteriosus, Abnormality of the lymphatic system, Dental malocclusion, T... ORPHA:487796
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus, Predominantly lower limb lymphedema ORPHA:33001
Phakomatosis Pigmentokeratotica
Spina bifida, Lymphedema ORPHA:2874
Kasabach-Merritt Syndrome
Abnormal lymphatic vessel morphology ORPHA:2330
Cardiofaciocutaneous Syndrome
Hypoplasia of the zygomatic bone, Lymphedema ORPHA:1340
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Abnormality of the temporomandibular joint, Lymphedema, Micrognathia, Asce... ORPHA:536471
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Polyhydramnios, Micrognathia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectas... ORPHA:1655
Ogden Syndrome
Microretrognathia, Pulmonary edema, Micrognathia, Lymphedema, Pulmonary artery stenosis, Patent d... OMIM:300855
Autosomal Recessive Spastic Paraplegia Type 11
Lymphedema ORPHA:2822
Costello Syndrome
Lymphangiectasis, Polyhydramnios, Micrognathia OMIM:218040
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal lymphangiectasia, Ascites, Edema, Generalized edema OMIM:226300
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Pleural effusion, Chylothorax, Edema, Lymphedema ORPHA:2526
Schneckenbecken Dysplasia
Malar flattening, Polyhydramnios, Lymphedema ORPHA:3144
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Predominantly lower limb lymphedema OMIM:604121
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lymphedema ORPHA:79280
Monosomy 22Q13.3
Palpebral edema, Lymphedema, Dental malocclusion, Umbilical hernia, Malar flattening ORPHA:48652
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Lymphedema, Neoplasm of the thymus, Spleno... ORPHA:744
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Micrognathia, Lymphedema, Coarctation of aorta, Gastrointestinal angiodyspl... ORPHA:99413
Turner Syndrome
Aortic arch aneurysm, Micrognathia, Lymphedema, Coarctation of aorta, Gastrointestinal angiodyspl... ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Micrognathia, Lymphedema, Coarctation of aorta, Gastrointestinal angiodyspl... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Micrognathia, Lymphedema, Coarctation of aorta, Gastrointestinal angiodyspl... ORPHA:99226
Noonan Syndrome 1
Lymphedema, Micrognathia, Patent ductus arteriosus, Dental malocclusion, Coarctation of aorta, Ch... OMIM:163950
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Polyhydramnios, Micrognathia, Asplenia, Pulmonary artery stenosis, Pat... OMIM:265380
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
Mandibular prognathia, Lymphedema, Pericardial effusion, Intracranial hemorrhage, Anasarca, Retro... ORPHA:79318
Tuberous Sclerosis 1
Dental enamel pits, Pulmonary lymphangiomyomatosis OMIM:191100
Holoprosencephaly 2
Malar flattening, Aplasia of the premaxilla OMIM:157170
Branchiooculofacial Syndrome
Micrognathia, Cleft of chin, Branchial anomaly, Malar flattening, Ectopic thymus tissue 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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