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Gene: Gjc2 MGI:2153060

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Gene Summary

Name:
gap junction protein, gamma 2
Synonyms:
connexin 47,  Cx47,  Gja12,  B230382L12Rik

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IMPC Data Collections

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.

Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 50% (1 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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
Demyelinating motor neuropathy, Cerebral atrophy, Cognitive impairment, Leukodystrophy, Cerebral ... OMIM:608804
Spastic Paraplegia 44, Autosomal Recessive
Cognitive impairment, CNS hypomyelination 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
Focal Cortical Dysplasia, Type Ii
Cognitive impairment, Astrocytosis OMIM:607341
Sporadic Creutzfeldt-Jakob Disease
Confusion, Cerebral atrophy, Astrocytosis, Dementia, Gliosis, Cognitive impairment, Memory impair... ORPHA:204
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Frontotemporal dementia, Astrocytosis, Memory impairment, Neuronal loss in central nervous system... OMIM:600795
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Reduction of oligodendroglia, Cerebral dysmyelination, Sudanophilic le... OMIM:312080
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia ... ORPHA:401830
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal dementia, Astrocytosis, Frontotemporal cerebral atrophy, Mental deterioration, Mem... ORPHA:275864
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination, Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia ... ORPHA:401820
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Decreased proportion of CD8-positive T cells, Abnormal oligodendro... ORPHA:217260
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:610951
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Huntington Disease
Cerebellar atrophy, Dementia, Gliosis, Neuronal loss in central nervous system OMIM:143100
Inherited Creutzfeldt-Jakob Disease
Short attention span, Confusion, Progressive forgetfulness, Astrocytosis, Central nervous system ... ORPHA:282166
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Cereb... OMIM:604213
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Frontotemporal dementia, Temporal cortical atrophy, Astro... ORPHA:100070
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Severe demyelination of the white matter, Corpus callosum atrophy, Gliosis, G... OMIM:236792
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Ce... OMIM:213200
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Cerebral atrophy, Brain atrophy, Abnormal myelination, A... ORPHA:85179
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Delayed CNS myelination, Cerebral atrophy, Cerebellar hemisphere hypoplasia, ... OMIM:615095
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Atrophy/Degeneration involving the caudate nucleus, Astrocytosis ORPHA:225154
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Corpus callosum atrophy, Frontal lobe dementia, CNS demyelination, Gliosis, Mental deterioration,... OMIM:221820
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Cerebral cortical atrophy, Peripheral de... OMIM:617672
Diaminopentanuria
Neurodegeneration OMIM:222350
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Dysmyelinating leukodystrophy, Neurodegeneration, Atrophy/Degeneration affect... OMIM:612319
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Frontotemporal dementia, C... OMIM:105550
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Gliosis, Neurodegeneration, Neuronal loss in central nervou... OMIM:256600
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Delayed myelination, Gliosis, Cerebellar hypoplasia... OMIM:214150
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Cerebral dysmyelination, Hypoplasia of the pons, Abnormal cerebellu... ORPHA:101070
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Progressive neurologic deterioration, Corpus callosum atrophy... OMIM:169500
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration ORPHA:438134
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Dementia, Gliosis, Neuronal loss in central nervous system, Cerebral atrophy OMIM:604218
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, CNS hypomyelination, Gliosis, Neurodegeneration, Neuronal loss in central ner... OMIM:616239
Supranuclear Palsy, Progressive, 1
Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Gliosis, Senile plaques, Memory imp... OMIM:601104
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Neurodegeneration OMIM:615889
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Cerebral cortical neurodegeneration, Cerebral atrophy, Astrocytosis, Dementia... OMIM:203700
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cerebellar hypoplasia, Abnormal myelination ORPHA:352682
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:616531
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Cognitive... ORPHA:370022
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Cognitive impairment, Astrocytosis ORPHA:258
Krabbe Disease
Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Neurodegeneration, CNS demyelination, Peri... OMIM:245200
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Delayed CNS myelination, Splenomegaly, Leukopenia, Neurodegeneration, Lymphopenia OMIM:620210
Cockayne Syndrome Type 3
Progressive neurologic deterioration, Splenomegaly, Astrocytosis, Cognitive impairment, Abnormal ... ORPHA:90324
Combined Oxidative Phosphorylation Defect Type 29
Delayed myelination, Axonal degeneration, Neurodegeneration, Diffuse cerebellar atrophy, Global b... ORPHA:478029
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Gliosis, Cerebellar hypoplasia, Abnormal myelination ORPHA:280210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar cyst, Ag... OMIM:613153
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Abnormal myelination, Polycythemia, Astrocytosis ORPHA:309854
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:615960
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:300894
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Olivopontocerebellar atrophy, Cerebral c... OMIM:615157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:615181
Neurodegeneration With Brain Iron Accumulation 6
Neurodegeneration OMIM:615643
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:615491
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormal myelination, Cerebral atrophy, Brain atrophy, Attention deficit hyperactivity disorder, ... ORPHA:442835
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Diffuse cerebral atrophy, Abnormal myelination ORPHA:289266
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Diffuse cerebral atrophy, Neurodegeneration, Cerebral atrophy ORPHA:391428
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Chiari type I malformation, Neurodegeneration, Cerebellar hypoplasia, Agenesis of corpus callosum... OMIM:618476
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... OMIM:214500
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration ORPHA:803
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration OMIM:615919
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Neurodegeneration, Pancytopenia, Gliosis, Cerebral atrophy OMIM:618321
Gm2 Gangliosidosis, Ab Variant
Neurodegeneration, Cerebral atrophy ORPHA:309246
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:610217
Leukodystrophy, Hypomyelinating, 2
Demyelinating motor neuropathy, Cerebral atrophy, Cognitive impairment, Leukodystrophy, Cerebral ... OMIM:608804
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Neurodegeneration OMIM:614298
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Olivopontocerebellar atrophy OMIM:146500
Hurler Syndrome
Splenomegaly, Abnormal CNS myelination, Neurodegeneration, Hepatosplenomegaly OMIM:607014
Cerebral Visual Impairment
Central nervous system degeneration, Neurodegeneration ORPHA:447788
Adrenoleukodystrophy
Neurodegeneration OMIM:300100
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Monosomy 18Q
Astrocytoma, Cerebellar hypoplasia, Abnormal myelination ORPHA:1600
Gm2-Gangliosidosis, Ab Variant
Neurodegeneration, Cerebral atrophy OMIM:272750
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cerebellar atrophy, Abnormal peripheral myelination, Atrophy of the spinal cord, Brain atrophy, A... ORPHA:466768
Mucopolysaccharidosis, Type Ii
Splenomegaly, Neurodegeneration, Hepatosplenomegaly OMIM:309900
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Splenomegaly, Delayed myelination, Cerebral atrophy, Gliosis, Abnormal myelin... ORPHA:404454
Neurodegeneration With Brain Iron Accumulation 3
Neurodegeneration OMIM:606159
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Glioma, T lymphocytopenia, B lymphocytopenia, Neurodegeneration, Thr... OMIM:251260
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Neurodegeneration, Cerebral atrophy OMIM:616878
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration ORPHA:79244
Mucopolysaccharidosis, Type Vii
Splenomegaly, Neurodegeneration OMIM:253220
Spastic Paraplegia 44, Autosomal Recessive
Cognitive impairment, CNS hypomyelination OMIM:613206
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia OMIM:601374
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed myelination, Neurodegeneration, Peripheral demyelination, Leukodystrophy OMIM:619475
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Neurodegeneration With Brain Iron Accumulation 1
Cerebral degeneration, Neurodegeneration, Global brain atrophy, Acanthocytosis OMIM:234200
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Abn... ORPHA:434179
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination ORPHA:320401
Degcags Syndrome
Pancytopenia, Congenital hypoplastic anemia, Hepatosplenomegaly, Leukopenia, Iron deficiency anem... 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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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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