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Gene: Slc1a2 MGI:101931

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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:
solute carrier family 1 (glial high affinity glutamate transporter), member 2
Synonyms:
1700091C19Rik,  GLT1,  MGLT1,  2900019G14Rik,  Eaat2,  GLT-1

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 Slc1a2 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 Slc1a2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Microcephaly, Focal tonic seizure, Cerebral atro... OMIM:617105
Non-Specific Early-Onset Epileptic Encephalopathy
Short stature, Microcephaly, Cerebral atrophy, Seizure, Status epilepticus, Myoclonus, Abnormal c... ORPHA:442835

The table below shows human diseases predicted to be associated to Slc1a2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Phosphoserine Phosphatase Deficiency
Microcephaly, Postnatal growth retardation, Cerebral atrophy, Seizure, Intrauterine growth retard... OMIM:614023
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Fo... ORPHA:101071
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
Seizure, Cerebral edema OMIM:614212
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Megalencephaly, Seizure, Lissencephaly, Pachygyria OMIM:614499
Kcnq2-Related Epileptic Encephalopathy
Epileptic spasm, Abnormal globus pallidus morphology, Cerebral atrophy, Abnormal cerebral white m... ORPHA:439218
Glioblastoma
Abnormal cerebral white matter morphology, Seizure, Cerebral edema, Abnormal corpus callosum morp... ORPHA:360
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Seizure, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ag... OMIM:300067
Isolated Focal Cortical Dysplasia
Thick cerebral cortex, Generalized-onset seizure, Epileptic spasm, Abnormal cortical gyration, In... ORPHA:65683
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Hyperglycinemia, Lactic Acidosis, And Seizures
Microcephaly, Cerebral atrophy, Growth delay, Seizure, Myoclonus, Cerebral edema OMIM:614462
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Simplified gyral pattern, Status epilepticus, Myoclonus, Generali... OMIM:616540
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Seizure, Cerebral edema OMIM:608033
Lissencephaly 3
Bilateral tonic-clonic seizure, Microcephaly, Polymicrogyria, Seizure, Lissencephaly, Hypoplasia ... OMIM:611603
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... ORPHA:250972
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Pachygyria, Bilateral tonic-clonic seizure, Polymicr... OMIM:614115
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Dysplastic corpus callosum,... OMIM:620317
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short stature, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, F... OMIM:245570
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... OMIM:615006
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures
Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Seizure, Cerebral edema OMIM:619876
Herpes Simplex Virus Encephalitis
Seizure, Status epilepticus, Focal aware seizure, Focal impaired awareness seizure, Cerebral edema ORPHA:1930
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Reduced cerebral white matter volume, Tonic sei... OMIM:618396
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... OMIM:617389
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... OMIM:619970
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Generalized-onset seizure, Focal-onset seizure, Abnormal cerebral white matter morphology, Status... ORPHA:83601
Developmental And Epileptic Encephalopathy 31A
Diffuse cerebral atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypica... OMIM:616346
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Microcephaly, Seizure, Myoclonus, Atypical absence... OMIM:617391
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Seizure, Cerebral edema OMIM:237300
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Microcephaly, Cerebral cortical atrophy, Status epilepticus, Agen... OMIM:620200
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Seizure, Cerebral edema OMIM:201450
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Focal motor seizure, Cerebral edema OMIM:602481
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Focal-onset seizure, Leukoencephalopathy, Cerebral atrophy, Myocl... OMIM:204300
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Maple Syrup Urine Disease
Seizure, Cerebral edema OMIM:248600
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Simplified gyral pattern, ... OMIM:619301
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Simple febrile seizure, Infantile spasms, Focal-onset seizure, He... ORPHA:98820
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co... OMIM:619302
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Familial Acute Necrotizing Encephalopathy
Abnormal putamen morphology, Seizure, Cerebral edema ORPHA:88619
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Micro... ORPHA:208447
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Reversible Cerebral Vasoconstriction Syndrome
Seizure, Ischemic stroke, Cerebral edema, Leukoencephalopathy ORPHA:284388
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Microcephaly, Tonic seizure... OMIM:619606
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebral white matter atrophy, Leukoencephalopathy, Myoclonic seizure, Seizure, Cerebral edema OMIM:617186
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seiz... OMIM:616409
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... ORPHA:725
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Myoclonic seizur... OMIM:616139
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Infantile spasms, Cerebral atrophy, Abnormal cerebral white matter morphology, Seizure, Myoclonus... OMIM:618321
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Polymicrogyria, Bilateral Perisylvian, X-Linked
Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Familial Or Sporadic Hemiplegic Migraine
Focal motor seizure, Complex febrile seizure, Status epilepticus, Focal sensory seizure, Cerebral... ORPHA:569
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Reduced cerebral white matter vol... OMIM:617711
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Hypointensity of cerebral white matter on MRI, Bilater... ORPHA:363549
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Brain Small Vessel Disease 2
Schizencephaly, Bilateral tonic-clonic seizure, Focal-onset seizure, Porencephalic cyst, Growth d... OMIM:614483
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Acute Disseminated Encephalomyelitis
Hypointensity of cerebral white matter on MRI, Diffuse white matter abnormalities, Abnormal basal... ORPHA:83597
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Hippocampal atrophy, Focal impaire... OMIM:614418
Japanese Encephalitis
Abnormal substantia nigra morphology, Bilateral tonic-clonic seizure, Paucity of anterior horn mo... ORPHA:79139
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... OMIM:618587
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... 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
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Microcephaly, Focal-onset seizure, Clonic... OMIM:617935
Intellectual Developmental Disorder, X-Linked 1
Seizure, Secondary microcephaly, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Cortical dysplasi... ORPHA:36387
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Growth delay, Seizure, Hyp... ORPHA:488635
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... OMIM:607682
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:617831
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Status ep... ORPHA:330050
Developmental And Epileptic Encephalopathy 106
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Mi... OMIM:620028
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... ORPHA:2382
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Foxg1 Syndrome
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Severe post... ORPHA:561854
Lissencephaly Due To Tuba1A Mutation
Agyria, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Hypoplastic anterior limb... ORPHA:171680
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Combined Oxidative Phosphorylation Deficiency 33
Intrauterine growth retardation, Cerebral edema, Oligohydramnios OMIM:617713
Dural Sinus Malformation
Seizure, Hypoplasia of the frontal lobes, Cerebral edema ORPHA:97339
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Diffuse cerebral atrophy, Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Focal-o... ORPHA:289266
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At... OMIM:617113
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Angiostrongyliasis
Seizure, Cerebral edema ORPHA:74
Progressive Myoclonic Epilepsy Type 3
Bilateral tonic-clonic seizure, Microcephaly, Cerebral atrophy, Aplasia/Hypoplasia of the corpus ... ORPHA:263516
Citrullinemia Type Ii
Seizure, Delayed menarche, Cerebral edema ORPHA:247585
Lujo Hemorrhagic Fever
Bilateral tonic-clonic seizure, Facial edema, Periorbital edema, Seizure, Cerebral edema, General... ORPHA:319213
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure, Generalized non-motor (absence... OMIM:619157
Citrullinemia, Type Ii, Adult-Onset
Cerebral edema OMIM:603471
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Amoebiasis Due To Free-Living Amoebae
Abnormal basal ganglia morphology, Abnormal hypothalamus morphology, Abnormal cerebral white matt... ORPHA:68
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... OMIM:605021
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Generalized non-motor (absence) seizure, Seizure, Lissencephaly, Pachygyria,... ORPHA:258
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Mitochondrial Complex I Deficiency, Nuclear Type 20
Cerebral edema OMIM:611126
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Microcephaly, Myoclonic seizure, Growth delay, Seizure, Lateral v... OMIM:615716
Citrullinemia, Classic
Seizure, Cerebral edema OMIM:215700
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Cerebral edema OMIM:619355
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Bilateral tonic-clonic seizure, Microcephaly OMIM:619278
Mitochondrial Complex I Deficiency, Nuclear Type 1
Bilateral tonic-clonic seizure, Microcephaly, Focal T2 hypointense basal ganglia lesion, Leukoenc... OMIM:252010
Ethylene Glycol Poisoning
Seizure, Myoclonus, Cerebral edema, Pulmonary edema ORPHA:31826
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Seizure, Cerebral edema OMIM:311250
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure, Cerebral atrophy, Myoclonic se... OMIM:226750
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Pachygyria, Bilateral tonic-clonic seizure ORPHA:329329
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Tonic seizure, Clonic seizure, Fo... OMIM:618012
X-Linked Intellectual Disability, Snyder Type
Short stature, Megalencephaly, Focal motor seizure, Myoclonus, Generalized myoclonic seizure, Cer... ORPHA:3063
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebral edema ORPHA:99901
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... ORPHA:86909
Argininosuccinic Aciduria
Seizure, Cerebral edema OMIM:207900
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Cryptococcosis
Seizure, Pleural effusion, Cerebral cortical atrophy, Cerebral edema ORPHA:1546
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Multifocal ce... OMIM:600721
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal motor stat... OMIM:619881
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb... OMIM:613855
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Microcephaly, Focal tonic seizure, Cerebral atro... OMIM:617105
Lissencephaly 9 With Complex Brainstem Malformation
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Hypoplastic anteri... OMIM:618325
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Familial Infantile Myoclonic Epilepsy
Thick cerebral cortex, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clo... ORPHA:352582
Developmental And Epileptic Encephalopathy 8
Frontal polymicrogyria, Bilateral tonic-clonic seizure, Tonic seizure, Focal impaired awareness s... OMIM:300607
Acute Liver Failure
Seizure, Cerebral edema ORPHA:90062
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Palpebral edema, Bilateral tonic-clonic seizure, Microcephaly ORPHA:79350
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Secondary microceph... OMIM:619835
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... ORPHA:501
Non-Specific Early-Onset Epileptic Encephalopathy
Short stature, Microcephaly, Cerebral atrophy, Seizure, Status epilepticus, Myoclonus, Abnormal c... ORPHA:442835

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 Slc1a2

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 Slc1a2.

No publications found that use IMPC mice or data for Slc1a2.

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