Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
guanine nucleotide binding protein (G protein), gamma 3
Synonyms:
83

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 Gng3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gng3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... OMIM:615400
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:22
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Short stature, Small for gestational age, Focal impaired awarenes... OMIM:245570
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Contractures of the large joints, Short stature, Postnatal growth retardation, Bilateral tonic-cl... OMIM:608278
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... OMIM:300088
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... OMIM:604403
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... ORPHA:306
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:616056
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Increased circulating procalcitonin concentration, Bil... ORPHA:363549
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:615369
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... OMIM:254770
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:121210
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:602477
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:604352
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... OMIM:618357
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal autonomic seizure, Bilateral tonic-clon... ORPHA:101046
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:613863
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:600669
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized ... ORPHA:139426
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:604233
Continuous Spikes And Waves During Sleep
Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Focal clonic s... ORPHA:725
Episodic Ataxia, Type 9
Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus OMIM:618924
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onse... OMIM:618856
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Short stature, Bilateral tonic-clonic seizure OMIM:619639
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:605021
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:613060
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure, Hypergonadotropic hypogonadism OMIM:601217
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Failure to thrive, Bilateral tonic-clonic seizure OMIM:616281
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Gen... OMIM:617831
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... ORPHA:101039
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607631
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:615697
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:616341
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607628
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Atonic seizure, Focal-onset seizure, Generalized myocl... ORPHA:2382
Unilateral Hemispheric Polymicrogyria
Focal atonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure, Gene... ORPHA:101071
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... OMIM:607682
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... OMIM:618587
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Nocturnal seizures, Infantile spasms, Deja vu aura, Focal impaire... ORPHA:98820
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Salt And Pepper Developmental Regression Syndrome
Failure to thrive, Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure OMIM:609056
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... OMIM:618873
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:607681
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Status epilepticus, Fo... ORPHA:330050
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Myoclonus, Short stature, Bilateral tonic-clonic seizure OMIM:619065
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Akt2-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Lipodystrophy, Increased intraabdominal fat, Decreased serum... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus, Lipodystrophy,... ORPHA:435660
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus, Lipodystrophy,... ORPHA:435651
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:86909
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... ORPHA:36387
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Focal-onset seizure, Generalized non-... OMIM:619157
Autosomal Dominant Non-Syndromic Intellectual Disability
Typical absence seizure, Bilateral tonic-clonic seizure, Short stature, Focal emotional seizure w... ORPHA:178469
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Short stature, Bilateral tonic-clonic seizure, Myoclonic absence s... OMIM:617836
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:254800
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Pyridoxine-Dependent Epilepsy
Bilateral tonic-clonic seizure, Early onset absence seizures, Seizure, Status epilepticus, Atonic... ORPHA:3006
Bilateral Generalized Polymicrogyria
Typical absence seizure, Infantile spasms, Bilateral tonic-clonic seizure, Short stature, Growth ... ORPHA:208447
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Sh... ORPHA:289266
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:79137
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Bilateral tonic-clonic seizure, Nocturnal seizure... ORPHA:98818
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic... OMIM:619317
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:208441
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:619000
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:263516
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:619301
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Rare Non-Syndromic Intellectual Disability
Seizure, Bilateral tonic-clonic seizure ORPHA:101685
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Brain Small Vessel Disease 2
Growth delay, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614483
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... OMIM:619338
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure, Diabetes mellitus OMIM:619278
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:619302
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Focal-onset seizure... OMIM:619616
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Foxg1 Syndrome
Severe postnatal growth retardation, Infantile spasms, Bilateral tonic-clonic seizure, Short stat... ORPHA:561854
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Short stature, Bilateral tonic-clonic seizure, Seizure, Generalized myoclonic seizure, Absent pub... ORPHA:464282
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Myoclonic seizure, Foc... ORPHA:363558
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Intrauterine growth retardation, Growth delay, Bilateral tonic-clonic seizure ORPHA:488635
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Generalized myoclonic seizure, Gener... OMIM:271980
Clcn4-Related X-Linked Intellectual Disability Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonus, Focal impaired ... ORPHA:485350
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Bilateral tonic-clonic seizure, Seizure, Bilateral tonic-clonic seizure with gene... ORPHA:352582
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... OMIM:618917
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Bilateral tonic-cloni... OMIM:617810
Alpers-Huttenlocher Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:726
Developmental And Epileptic Encephalopathy 90
Hypothyroidism, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Focal-onset sei... OMIM:301058
Dk1-Cdg
Short stature, Infantile spasms, Bilateral tonic-clonic seizure, Failure to thrive, Seizure, Foca... ORPHA:91131
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Joint contractures involving the joints of the feet, Bilateral tonic-clonic seizure, Premature pu... ORPHA:457205
Developmental And Epileptic Encephalopathy 4
Bilateral tonic-clonic seizure, Status epilepticus, Generalized myoclonic seizure, Generalized to... OMIM:612164
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Intellectual Developmental Disorder, X-Linked 30
Seizure, Short stature, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300558
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Atonic seizure, Genera... ORPHA:382
Spinocerebellar Ataxia 48
Cachexia, Bilateral tonic-clonic seizure OMIM:618093
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Inc... ORPHA:280365
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, El... ORPHA:3044
Infantile Cerebellar-Retinal Degeneration
Failure to thrive, Decreased body weight, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614559
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Abnormality of body weight, Type II diabetes mellitus, Abnorm... ORPHA:2298
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Bilateral tonic-clonic seizure, Seizure, Overweight, Decreased response to growth ... ORPHA:457240
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Growth delay, Bilateral tonic-clonic seizure, Tonic seizure, Infantile spasms, Focal impaired awa... OMIM:619428
Rett Syndrome
Seizure, Increased serum leptin, Failure to thrive ORPHA:778
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Diabetes mellitus, Bilateral tonic-clonic seizure OMIM:540000
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Failure to thrive, Mild short stature, Seizure, Umbilical hernia OMIM:169400
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, ... ORPHA:168491
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Infantile spasms, Bilateral tonic-clonic seizure, Failure to thrive, Seizure, Flexion contracture... ORPHA:544503
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Bilateral tonic-clonic seizure, Short stature, Failure to thrive... ORPHA:79351
X-Linked Non-Syndromic Intellectual Disability
Small for gestational age, Bilateral tonic-clonic seizure, Seizure, Obesity, Generalized non-moto... ORPHA:777
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Growth delay, Bilateral tonic-clonic seizure, Failure to thrive, Focal impaired awareness seizure... ORPHA:488613
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:614487
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
X-Linked Intellectual Disability, Hedera Type
Obesity, Atonic seizure, Bilateral tonic-clonic seizure ORPHA:93952
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Seizure, Status epilepticus, Bilateral tonic-clonic seizure ORPHA:529665
Lafora Disease
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Seizure, Bilateral t... ORPHA:501
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Bilateral tonic-clonic seizure, Abnormal circulating renin, Focal impaired a... ORPHA:369929
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia, Febrile seizure (within the age range of 3 months to 6 years), B... ORPHA:42
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Myoclonus, Bilateral tonic-clonic seizure with focal onset, Focal... OMIM:254780
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:313772
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Bilateral tonic-clonic seizure ORPHA:79350
Lipodystrophy, Congenital Generalized, Type 1
Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue, Lipodystrop... OMIM:608594
Bilateral Polymicrogyria
Central hypothyroidism, Infantile spasms, Bilateral tonic-clonic seizure, Arthrogryposis multiple... ORPHA:268940
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater... ORPHA:98795
Epilepsy, Familial Adult Myoclonic, 2
Myoclonus, Bilateral tonic-clonic seizure OMIM:607876
Lipodystrophy, Congenital Generalized, Type 2
Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue, Lipodystrop... OMIM:269700
Nestor-Guillermo Progeria Syndrome
Growth delay, Short stature, Failure to thrive, Lipoatrophy, Decreased serum leptin, Flexion cont... OMIM:614008
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, In... ORPHA:1934
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Intrauterine growth retardation, Diabetes insipidus, Short stature, Bilateral tonic-clonic seizur... ORPHA:423479
Isolated Permanent Neonatal Diabetes Mellitus
Intrauterine growth retardation, Bilateral tonic-clonic seizure, Failure to thrive, Contractures ... ORPHA:99885
Intellectual Developmental Disorder, X-Linked 98
Central hypothyroidism, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Failure ... OMIM:300912
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awareness seizure, Multifocal se... ORPHA:480864
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Bilateral tonic-clonic seizure OMIM:608809
Pseudoleprechaunism Syndrome, Patterson Type
Bilateral tonic-clonic seizure, Premature adrenarche, Increased circulating androgen concentratio... ORPHA:2976
Atypical Werner Syndrome
Type II diabetes mellitus, Chondrocalcinosis, Short stature, Abnormality of circulating leptin le... ORPHA:79474
Angelman Syndrome
Precocious puberty in females, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonus, Seizu... ORPHA:72
Nivelon-Nivelon-Mabille Syndrome
Severe short stature, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:600092
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Seizure, Generalized myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic ... ORPHA:1947
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Failure to thrive, Seizure, Focal-onset seizure, Generalized myoc... ORPHA:395
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure ORPHA:98784
Molybdenum Cofactor Deficiency, Complementation Group C
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
Oliver Syndrome
Intrauterine growth retardation, Bilateral tonic-clonic seizure, Knee flexion contracture, Campto... ORPHA:2920
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Bilateral tonic-clonic seizure OMIM:615474
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Infantile spasms, Bilateral tonic-clonic seizure, Wrist flexion contrac... OMIM:618733
Biotinidase Deficiency
Infantile spasms, Bilateral tonic-clonic seizure, Focal motor seizure, Seizure, Generalized myocl... ORPHA:79241
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Failure to thrive in infancy, Febrile seizure (within the age range of 3 months to 6 years), Intr... ORPHA:268261
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Growth delay, Bilateral tonic-clon... ORPHA:459070
Hutchinson-Gilford Progeria Syndrome
Weight loss, Absence of subcutaneous fat, Severe failure to thrive, Decreased serum leptin, Puber... ORPHA:740
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Pineal cyst, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cloni... ORPHA:513456
Tubular Renal Disease-Cardiomyopathy Syndrome
Hyperaldosteronism, Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:73224
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Multiple joint contractures, Myoclonic spasms, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:447997

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 Gng3

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 Gng3.

No publications found that use IMPC mice or data for Gng3.

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MGI Allele Allele Type Produced
Gng3tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Gng3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Gng3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gng3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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