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
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
OMIM:148210
Bart-Pumphrey Syndrome
OMIM:149200
Vohwinkel Syndrome
OMIM:124500
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
Lymphedema, Pedal edema OMIM:619401
Lymphatic Malformation 2
Lymphedema OMIM:611944
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Lymphatic Malformation 9
Predominantly lower limb lymphedema, Tortuous lymphatic vessels OMIM:619319
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Gjc2-Related Late-Onset Primary Lymphedema
Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal lymphatic vessel morph... 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
Predominantly lower limb lymphedema, Facial edema, 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
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Prominent superficial veins, Hype... OMIM:153100
Lymphatic Malformation 10
Lymphedema OMIM:619369
German Syndrome
Lymphedema OMIM:231080
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis OMIM:606690
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphedema, Pleural effusion, Lymphadenopathy ORPHA:545
Chylous Ascites
Lymphedema, Ascites ORPHA:1160
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pulmonary lymphangiectasia, Lymphedema, Pericardial lymphangiectasia, Intestinal lymphangiectasia OMIM:616006
Meige Disease
Predominantly lower limb lymphedema, Facial edema, Absence of lymph node germinal center, Edema o... ORPHA:90186
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Facial edema, Edema OMIM:618154
Lymphatic Malformation 4
Lymphedema OMIM:615907
Hydrops Fetalis
Nonimmune hydrops fetalis, Abnormality of the lymphatic system, Polyhydramnios, Lymphedema, Pleur... ORPHA:1041
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Lymphedema, Fetal ascites OMIM:620014
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Splenomegaly, Micrognathia, Nonimmune hydrops fetalis, ... OMIM:616843
Lissencephaly 2
Lymphedema OMIM:257320
Lymphangiectasia, Intestinal
Pedal edema, Stillbirth, Edema, Intestinal lymphangiectasia OMIM:152800
Lissencephaly 7 With Cerebellar Hypoplasia
Micrognathia, Lymphedema, Neonatal death OMIM:616342
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Cholestasis-Lymphedema Syndrome
Lymphedema, Splenomegaly OMIM:214900
Dohle Bodies And Leukemia
Lymphedema OMIM:223350
Yellow Nail Syndrome
Sinusitis, Lymphedema, Hypoplasia of lymphatic vessels ORPHA:662
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Edema, Intestinal lymphangiectasia, Generalized edema, Pleu... ORPHA:90362
Milroy Disease
Predominantly lower limb lymphedema, Abnormal venous morphology, Lymphedema, Pedal edema, Varicos... ORPHA:79452
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Abnormality of the lymphat... ORPHA:69735
Kaposi Sarcoma
Generalized lymphadenopathy, Lymphedema, Abnormality of the spleen, Venous insufficiency ORPHA:33276
Melorheostosis
Lymphedema, Peripheral arteriovenous fistula ORPHA:2485
Al-Gazali-Bakalinova Syndrome
Lymphedema, Malar flattening OMIM:607131
Chromomycosis
Lymphangiectasis, Predominantly lower limb lymphedema, Lymphedema, Edema ORPHA:182
Campomelia, Cumming Type
Polysplenia, Lymphedema OMIM:211890
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Malar flattening, Splenomegaly, Micrognathia, Pulmonary lymphangiectasia, Polyhydramnios, Lymphed... OMIM:235255
Greenberg Dysplasia
Micrognathia, Lymphedema ORPHA:1426
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy, Lymphedema OMIM:607115
Cholestasis-Lymphedema Syndrome
Lymphedema, Abnormality of the lymphatic system, Splenomegaly ORPHA:1414
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema, Varicose veins, Venous malformation OMIM:613089
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Lymphedema OMIM:247410
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Malar flattening, Thyroid lymphangiectasia, Retrognathia, Delayed eruption of teeth, Spina bifida... OMIM:235510
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Malar flattening, Pulmonary lymphangiectasia, Chylous ascites, Palpebr... OMIM:265300
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Generalized edema, Abnormal paranasal sinus morphology, Intestinal lymphangiectasia OMIM:207731
Kaposiform Lymphangiomatosis
Lymphangioma, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Epidural hemorrhage, ... ORPHA:464329
Lymphedema, Primary, With Myelodysplasia
Lymphedema OMIM:614038
German Syndrome
Micrognathia, Lymphedema, Tetralogy of Fallot ORPHA:2077
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Hydrops fetalis, Lymphedema, Patent ductus arteriosus, Overriding aorta, Vascula... OMIM:601927
Klippel-Trenaunay-Weber Syndrome
Lymphangioma, Lymphedema, Arteriovenous fistula OMIM:149000
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Lymphadenopathy, Lymphedema, Splenomegaly ORPHA:3226
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Edema OMIM:602579
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Oligohydramnios, Lymphedema, Patent ductus arteriosus OMIM:613623
Parkes Weber Syndrome
Arteriovenous malformation, Peripheral arteriovenous fistula, Spinal arteriovenous malformation, ... ORPHA:90307
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Pulmonary lymphangiectasia, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Mandibular pr... OMIM:137940
Mucopolysaccharidosis Type 7
Arteriovenous malformation, Splenomegaly, Hydrops fetalis, Lymphedema, Umbilical hernia, Ascites ORPHA:584
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, Peripheral arteriovenous fistula, Chylothorax, Nonimmune hydrops feta... ORPHA:137667
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphedema ORPHA:1116
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Tetralogy of Fallot, Lymphedema, Patent ductus arteriosus, V... OMIM:153400
Clapo Syndrome
Lymphangioma, Varicose veins, Venous malformation, Lymphedema ORPHA:168984
Cantu Syndrome
Lymphedema, Patent ductus arteriosus, Pericardial effusion, Umbilical hernia OMIM:239850
Monosomy 18P
Micrognathia, Lymphedema, Carious teeth ORPHA:1598
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema ORPHA:3137
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis OMIM:607823
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema ORPHA:79279
Cronkhite-Canada Syndrome
Lymphedema, Splenomegaly ORPHA:2930
Tenosynovial Giant Cell Tumor
Joint swelling, Lymphedema ORPHA:66627
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphadenitis, Abnormality of the lymphatic system, Lymphede... ORPHA:2035
Hennekam Syndrome
Arteriovenous malformation, Lymphangioma, Supernumerary tooth, Chylothorax, Splenomegaly, Retrogn... ORPHA:2136
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
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
Buschke-Ollendorff Syndrome
Lymphedema, Abnormal aortic morphology ORPHA:1306
Noonan Syndrome 13
Micrognathia, Lymphedema OMIM:619087
Phelan-Mcdermid Syndrome
Dental malocclusion, Malar flattening, Micrognathia, Palpebral edema, Lymphedema, Patent ductus a... OMIM:606232
Campomelia, Cumming Type
Oligohydramnios, Hydrops fetalis, Lymphedema ORPHA:1318
Familial Exudative Vitreoretinopathy
Macular edema, Lymphedema ORPHA:891
Lymphangioleiomyomatosis
Chylopericardium, Chylothorax, Abnormality of the lymphatic system, Lymphedema, Pulmonary lymphan... ORPHA:538
Distal Xq28 Microduplication Syndrome
Upper eyelid edema, Predominantly lower limb lymphedema, Patent ductus arteriosus, Hypoplasia of ... ORPHA:293939
Dahlberg-Borer-Newcomer Syndrome
Lymphedema ORPHA:1563
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Lymphedema ORPHA:2176
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Lymphedema OMIM:300291
Takenouchi-Kosaki Syndrome
Dental malocclusion, Lymphedema, Patent ductus arteriosus OMIM:616737
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Micrognathia, Intracranial hemorrhage, Lymphedema, Aortic aneurysm ORPHA:109
Fabry Disease
Transient ischemic attack, Lymphedema OMIM:301500
Cerebrofacioarticular Syndrome
Micrognathia, Lymphedema, Hypoplasia of the maxilla ORPHA:314679
Noonan Syndrome
Micrognathia, Abnormality of the spleen, Abnormality of the lymphatic system, Lymphedema, Pulmona... ORPHA:648
Secondary Intestinal Lymphangiectasia
Chylous ascites, Intestinal lymphedema, Lymphedema, Anasarca, Pleural effusion, Edema ORPHA:90363
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Dental malocclusion, Abnormality of the lymphatic system, Total anomalous pulmonary venous return... ORPHA:487796
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Patent ductus arteriosus, Varicose veins ORPHA:33001
Cardiofaciocutaneous Syndrome
Lymphedema, Hypoplasia of the zygomatic bone ORPHA:1340
Oculoectodermal Syndrome
Transient ischemic attack, Lymphedema, Patent ductus arteriosus, Coarctation of aorta OMIM:600268
Kasabach-Merritt Syndrome
Abnormal lymphatic vessel morphology ORPHA:2330
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Polyhydramnios, Lymphedema, Chylothorax OMIM:613563
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Micrognathia, Pulmonary lymphangiectasia, Hepatosplenomegaly, Polyhydramnios, Pancr... ORPHA:1655
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Micrognathia, Lymphedema, Ascending tubular aorta aneurysm, Abnormality of... ORPHA:536471
Autosomal Recessive Spastic Paraplegia Type 11
Lymphedema ORPHA:2822
Ogden Syndrome
Peripheral pulmonary artery stenosis, Microretrognathia, Pulmonary edema, Micrognathia, Lymphedem... OMIM:300855
Costello Syndrome
Lymphangiectasis, Micrognathia, Polyhydramnios OMIM:218040
Schneckenbecken Dysplasia
Polyhydramnios, Lymphedema, Malar flattening ORPHA:3144
Angioosteohypertrophic Syndrome
Lymphedema, Peripheral arteriovenous fistula, Venous insufficiency ORPHA:2346
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Pleural effusion, Lymphedema, Chylothorax, Edema ORPHA:2526
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lymphedema ORPHA:79280
Proteus Syndrome
Arteriovenous malformation, Lymphangioma, Splenomegaly, Neoplasm of the thymus, Sirenomelia, Cari... ORPHA:744
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Retrognathia, Micrognathia, Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Neonatal death... OMIM:265380
Monosomy 22Q13.3
Dental malocclusion, Malar flattening, Palpebral edema, Lymphedema, Umbilical hernia ORPHA:48652
Turner Syndrome Due To Structural X Chromosome Anomalies
Retrognathia, Micrognathia, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aort... ORPHA:99413
Turner Syndrome
Retrognathia, Micrognathia, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aort... ORPHA:881
Mosaic Monosomy X
Retrognathia, Micrognathia, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aort... ORPHA:99228
Monosomy X
Retrognathia, Micrognathia, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aort... ORPHA:99226
Noonan Syndrome 1
Dental malocclusion, Chylothorax, Micrognathia, Coarctation of aorta, Lymphedema, Patent ductus a... OMIM:163950
Fabry Disease
Transient ischemic attack, Lymphedema ORPHA:324
Kanzaki Disease
Lymphedema OMIM:609242
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Predominantly lower limb lymphedema ORPHA:314404
Aarskog Syndrome, Autosomal Dominant
Lymphedema, Hypoplasia of the maxilla OMIM:100050
Pmm2-Cdg
Retrognathia, Intracranial hemorrhage, Lymphedema, Anasarca, Mandibular prognathia, Pericardial e... ORPHA:79318
Tuberous Sclerosis 1
Pulmonary lymphangiomyomatosis, Dental enamel pits OMIM:191100
Holoprosencephaly 2
Aplasia of the premaxilla, Malar flattening OMIM:157170
Branchiooculofacial Syndrome
Malar flattening, Cleft of chin, Micrognathia, Branchial anomaly, Ectopic thymus tissue OMIM:113620
Tuberous Sclerosis 2
Pulmonary lymphangiomyomatosis OMIM:613254
Saethre-Chotzen Syndrome
Malar flattening, Hypoplasia of the maxilla, Cleft of chin OMIM:101400
Tuberous Sclerosis Complex
Pulmonary lymphangiomyomatosis, Aortic aneurysm 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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