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, gamma 2
Synonyms:
connexin 47,  Cx47,  Gja12,  B230382L12Rik

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 Gjc2 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 Gjc2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukodystrophy, Hypomyelinating, 2
Cerebral atrophy, Demyelinating motor neuropathy, Cognitive impairment, Leukodystrophy, Cerebral ... OMIM:608804
Spastic Paraplegia 44, Autosomal Recessive
Cognitive impairment OMIM:613206
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination ORPHA:320401
Milroy Disease
ORPHA:79452
Lymphatic Malformation 3
OMIM:613480

The table below shows human diseases predicted to be associated to Gjc2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Senile plaques, Mental deterioration, Memory impairment, Astrocytosis,... ORPHA:100070
Focal Cortical Dysplasia, Type Ii
Cognitive impairment, Astrocytosis OMIM:607341
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Neuronal loss in central nervous system, Cerebral cortical atrophy, Memory impairment, Astrocytos... OMIM:600795
Sporadic Creutzfeldt-Jakob Disease
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Cognitive impairment, Memory ... ORPHA:204
Behavioral Variant Of Frontotemporal Dementia
Mental deterioration, Memory impairment, Astrocytosis, Frontotemporal cerebral atrophy, Frontotem... ORPHA:275864
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, Cerebellar vermis atrophy, Cognitive impairment, Mental deterioration, S... OMIM:312080
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia ... ORPHA:401830
Spinocerebellar Ataxia, Autosomal Recessive 27
Mental deterioration, Gliosis, Cerebral atrophy, Cerebellar atrophy OMIM:618369
Progressive Multifocal Leukoencephalopathy
Cognitive impairment, Mental deterioration, Decreased proportion of CD8-positive T cells, Abnorma... ORPHA:217260
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination, Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia ... ORPHA:401820
Leukoencephalopathy, Progressive, With Ovarian Failure
Neurodegeneration, Cerebellar atrophy OMIM:615889
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Huntington Disease
Neuronal loss in central nervous system, Gliosis, Cerebellar atrophy, Dementia OMIM:143100
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Cerebral atrophy, Cerebellar atrophy OMIM:610951
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Cerebe... OMIM:604213
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis, Dementia OMIM:606688
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Brain atrophy, Cerebral atrophy, Partial agenesis of the corpus callosum, Abnormal myelination, A... ORPHA:85179
Inherited Creutzfeldt-Jakob Disease
Senile plaques, Neuronal loss in central nervous system, Progressive forgetfulness, Astrocytosis,... ORPHA:282166
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Gliosis, Limb ataxia, Dysmetria, Cerebellar hypoplasia, Gait ataxia, Unsteady gait OMIM:213200
Developmental And Epileptic Encephalopathy 14
Neuronal loss in central nervous system, Gliosis, Delayed myelination, Cerebral cortical atrophy OMIM:614959
Microcephaly 10, Primary, Autosomal Recessive
Gliosis, Delayed myelination, Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination OMIM:615095
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Neuronal loss in central nervous system, Gliosis, Astrocytosis, Cerebellar atrophy, Cerebral cort... OMIM:203700
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Astrocytosis, Atrophy/Degeneration involving the caudate nucleus ORPHA:225154
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Neuronal loss in central nervous system, Gliosis, Mental deterioration, Corpus callosum atrophy, ... OMIM:221820
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis OMIM:172500
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Cerebral atrophy, Neurodegeneration, Cerebellar atrophy, Peripheral de... OMIM:617672
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Abnormal myelination, Cerebellar atrophy OMIM:618324
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Combined Oxidative Phosphorylation Deficiency 24
Neuronal loss in central nervous system, Gliosis, Neurodegeneration, Cerebellar atrophy, CNS hypo... OMIM:616239
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy... OMIM:105550
Diaminopentanuria
Neurodegeneration OMIM:222350
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Dysmyelinating leukodystrophy, Neurodegeneration, C... OMIM:612319
L-2-Hydroxyglutaric Aciduria
Gliosis, Severe demyelination of the white matter, Corpus callosum atrophy, Cerebellar atrophy, G... OMIM:236792
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Neurodegeneration, Cerebellar atrophy OMIM:300894
Cerebrooculofacioskeletal Syndrome 1
Gliosis, Delayed myelination, Brain atrophy, Cerebellar hypoplasia, Neurodegeneration, Diffuse ce... OMIM:214150
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Abnormal cerebellum morphology, Gliosis, Leukodystrophy, Corpus callosum atrophy, Progressive neu... OMIM:169500
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Cerebellar atrophy ORPHA:438134
Bilateral Frontoparietal Polymicrogyria
Cerebral dysmyelination, Abnormal cerebellum morphology, Hypoplasia of the pons, Cerebellar vermi... ORPHA:101070
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis, Frontotemporal dementia OMIM:300857
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Dementia OMIM:604218
Supranuclear Palsy, Progressive, 1
Frontolimbic dementia, Senile plaques, Neuronal loss in central nervous system, Gliosis, Cerebral... OMIM:601104
Hereditary Methemoglobinemia
Methemoglobinemia, Temporal cortical atrophy, Delayed myelination, Frontal cortical atrophy, Cere... ORPHA:621
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Decreased number of peripheral myelinated nerve fibers, Glio... OMIM:604484
Neurodegeneration With Brain Iron Accumulation 2A
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Neurodegeneration, Cerebellar... OMIM:256600
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral atrophy, Axonal degeneration, Neurodegeneration, Olivopontocerebellar atrophy, Cerebella... OMIM:615157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypoplasia OMIM:616531
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination, Cerebellar hypoplasia ORPHA:352682
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Cognitive impairment, Dilated fourth ventricle, Inferior ... ORPHA:370022
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Cognitive impairment, Astrocytosis ORPHA:258
Krabbe Disease
Autoimmune thrombocytopenia, Neurodegeneration, Diffuse cerebral atrophy, CNS demyelination, Peri... OMIM:245200
Cockayne Syndrome Type 3
Demyelinating peripheral neuropathy, Brain atrophy, Splenomegaly, Cognitive impairment, Progressi... ORPHA:90324
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Delayed myelination, Axonal degeneration, Neurodegeneration, Global b... ORPHA:478029
Pelizaeus-Merzbacher Disease, Connatal Form
Gliosis, Cerebral hypomyelination, Abnormal myelination, Cerebellar hypoplasia ORPHA:280210
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar hypoplasia, Inability to walk, Cerebellar dysplasia OMIM:613155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Cerebellar dysplasi... OMIM:613153
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Abnormal myelination, Astrocytosis, Splenomegaly ORPHA:309854
Poretti-Boltshauser Syndrome
Cerebellar cyst, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia OMIM:615960
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
CNS hypomyelination, Delayed myelination, Cerebellar atrophy OMIM:618367
Spastic Paraplegia 79, Autosomal Recessive
Cerebral atrophy, Neurodegeneration, Cerebellar atrophy OMIM:615491
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy, Progressive language... OMIM:607485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar hypoplasia, Cerebellar cyst, Hypoplasia of the pons, Cerebellar dysplasia OMIM:615181
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gliosis, Cerebellar dysplasia ORPHA:457240
Neurodegeneration With Brain Iron Accumulation 6
Neurodegeneration OMIM:615643
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Neurodegeneration, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:618476
Ataxia-Telangiectasia-Like Disorder 2
Neurodegeneration, Cerebellar atrophy OMIM:615919
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Diffuse cerebral atrophy, Abnormal myelination ORPHA:289266
Chediak-Higashi Syndrome
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Neurodegeneration, Impaired ... OMIM:214500
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Frontotemporal cerebral atrophy, Cerebral atrophy, Neurodegeneration ORPHA:391428
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Abnormal myelination, Cerebral atrophy, Brain atrophy ORPHA:442835
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration ORPHA:803
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gliosis, Cerebral atrophy, Neurodegeneration, Pancytopenia OMIM:618321
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Neurodegeneration, Cerebellar atrophy OMIM:610217
Leukodystrophy, Hypomyelinating, 2
Cerebral atrophy, Demyelinating motor neuropathy, Cognitive impairment, Leukodystrophy, Cerebral ... OMIM:608804
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration ORPHA:309246
Cerebral Visual Impairment
Central nervous system degeneration, Neurodegeneration ORPHA:447788
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Olivopontocerebellar atrophy OMIM:146500
Neurodegeneration With Brain Iron Accumulation 4
Neurodegeneration, Cerebellar atrophy OMIM:614298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar hypoplasia, Partial absence of cerebellar vermis, Cerebellar dysplasia, Cerebellar cys... OMIM:613150
Hurler Syndrome
Hepatosplenomegaly, Abnormal CNS myelination, Neurodegeneration, Splenomegaly OMIM:607014
Nijmegen Breakage Syndrome
Glioma, Neurodegeneration, B lymphocytopenia, T lymphocytopenia, Autoimmune hemolytic anemia, Thr... OMIM:251260
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration OMIM:272750
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Brain atrophy, Atrophy of the spinal cord, Mixed demyelinating a... ORPHA:466768
Monosomy 18Q
Abnormal myelination, Cerebellar hypoplasia, Astrocytoma ORPHA:1600
Adrenoleukodystrophy
Neurodegeneration OMIM:300100
Mucopolysaccharidosis, Type Ii
Hepatosplenomegaly, Neurodegeneration, Splenomegaly OMIM:309900
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Gliosis, Delayed myelination, Cerebral atrophy, Splenomegaly, Cerebellar atrophy, Abnormal myelin... ORPHA:404454
Neurodegeneration With Brain Iron Accumulation 3
Neurodegeneration OMIM:606159
Mucopolysaccharidosis, Type Vii
Neurodegeneration, Splenomegaly OMIM:253220
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration ORPHA:79244
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cerebral atrophy, Neurodegeneration OMIM:616878
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia OMIM:601374
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Leukodystrophy, Delayed myelination, Neurodegeneration, Peripheral demyelination OMIM:619475
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Neurodegeneration With Brain Iron Accumulation 1
Cerebral degeneration, Global brain atrophy, Neurodegeneration, Acanthocytosis OMIM:234200
Spastic Paraplegia 44, Autosomal Recessive
Cognitive impairment OMIM:613206
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Abnormal myelination, Dilated fourth ventricle, Dandy-Wa... ORPHA:434179
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination ORPHA:320401
Degcags Syndrome
Congenital hypoplastic anemia, Leukopenia, Abnormal spleen morphology, Hepatosplenomegaly, Iron d... OMIM:619488
Primrose Syndrome
Neurodegeneration OMIM:259050
Lymphatic Malformation 3
OMIM:613480
Milroy Disease
ORPHA:79452

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 Gjc2

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 Gjc2.

No publications found that use IMPC mice or data for Gjc2.

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MGI Allele Allele Type Produced
Gjc2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Gjc2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Gjc2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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