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

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 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
Microcephaly, Cerebral atrophy, Seizure, Hypoplasia of the corpus callosum OMIM:617105
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Abnormal corpus callosum morphology, Status epilepticus, Microcephaly, Short st... 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
Cerebral atrophy, Intrauterine growth retardation, Microcephaly, Postnatal growth retardation, Se... OMIM:614023
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
Cerebral edema, Seizure OMIM:614212
Glioblastoma
Cerebral edema, Abnormal corpus callosum morphology, Seizure, Abnormal cerebral white matter morp... ORPHA:360
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Thick cerebral cortex, Cortical dysplasia, Bi... ORPHA:101071
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Cerebral atrophy, Abnormal globus pallidus morphology, Generalized tonic seizure,... ORPHA:439218
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Microcephaly, Short stature, Cortical dysplasia, Postnatal growth retardation, Bilateral tonic-cl... OMIM:608278
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Cerebral edema, Seizure OMIM:608033
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Isolated Focal Cortical Dysplasia
Abnormal cortical gyration, Generalized-onset seizure, Hyperintensity of cerebral white matter on... ORPHA:65683
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Lissencephaly, Pachygyria, Postnatal growth retardation, Sei... OMIM:300067
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebral atrophy, Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure,... OMIM:611726
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure, Polymicrogyria, Pachygyria OMIM:614115
Dravet Syndrome
Cerebral atrophy, Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-induced s... OMIM:607208
Rare Non-Syndromic Intellectual Disability
Cerebral atrophy, Absent septum pellucidum, Hypoplastic hippocampus, Microcephaly, Dysgenesis of ... ORPHA:101685
Herpes Simplex Virus Encephalitis
Cerebral edema, Focal aware seizure, Focal impaired awareness seizure, Seizure, Status epilepticus ORPHA:1930
Developmental And Epileptic Encephalopathy 98
Cerebral atrophy, Perisylvian polymicrogyria, Bilateral tonic-clonic seizure with focal onset, Fo... OMIM:619605
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Primary mic... OMIM:245570
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Cerebral edema, Seizure OMIM:237300
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebral edema, Leukoencephalopathy, Seizure OMIM:617186
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Bilateral tonic-clonic sei... ORPHA:250972
Developmental And Epileptic Encephalopathy 34
Cerebral atrophy, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onset, Foca... OMIM:616645
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormality of thalamus morphology, Seizure, Abnormal putamen morphology ORPHA:88619
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Cerebral edema, Seizure OMIM:311250
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Cerebral edema, Seizure OMIM:201450
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral edema, Cerebral atrophy, Seizure, Abnormal cerebral white matter morphology OMIM:618321
Reversible Cerebral Vasoconstriction Syndrome
Cerebral edema, Leukoencephalopathy, Seizure, Ischemic stroke ORPHA:284388
Maple Syrup Urine Disease
Cerebral edema, Seizure OMIM:248600
Familial Focal Epilepsy With Variable Foci
Deja vu aura, Focal cortical dysplasia, Focal-onset seizure, Focal aware seizure, Hemimegalenceph... ORPHA:98820
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure, Pachygyria OMIM:600176
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Hypointensity of cerebral white matter on MRI, Seizure precipitated by f... ORPHA:363549
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Cerebral atrophy, Bilateral tonic-clonic seizure OMIM:610003
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure, Polymicrogyria OMIM:300388
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, Visually-induced seizure, Focal aware seizure, Bilateral tonic-... OMIM:614417
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Tonic seizure, Focal hemiclonic seizure, Perisylvian polymicrogyria, Hypoplasti... OMIM:619606
Brain Small Vessel Disease 2
Schizencephaly, Porencephalic cyst, Focal-onset seizure, Growth delay, Bilateral tonic-clonic sei... OMIM:614483
Febrile Seizures, Familial, 11
Hippocampal atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile se... OMIM:614418
Autosomal Dominant Non-Syndromic Intellectual Disability
Abnormal hippocampus morphology, Typical absence seizure, Microcephaly, Epileptic spasm, Dilation... ORPHA:178469
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Bilateral tonic-clonic seizure, Focal sensory seizure with visual features... OMIM:615400
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Abnormal cerebra... OMIM:618587
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Atonic seizure, Generalized-onset seizure, Abnormal hippocampus morphology, Gen... ORPHA:208447
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum, Postnatal growth retardation, Intrauterine growth retard... OMIM:233810
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus ORPHA:22
Lissencephaly 10
Agyria, Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Generalized-o... OMIM:618873
Benign Familial Infantile Epilepsy
Focal motor seizure, Bilateral tonic-clonic seizure with focal onset, Focal clonic seizure, Focal... ORPHA:306
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Acute Disseminated Encephalomyelitis
Cerebral edema, Abnormality of the basal ganglia, Hypointensity of cerebral white matter on MRI, ... ORPHA:83597
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Familial Or Sporadic Hemiplegic Migraine
Focal sensory seizure, Cerebral edema, Complex febrile seizure, Focal motor seizure, Status epile... ORPHA:569
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Microcephaly, Short stature, Decreased response to growth hormone stimulation test, Postnatal gro... OMIM:618160
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Basal ganglia calcification OMIM:615361
Developmental And Epileptic Encephalopathy 94
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... OMIM:615369
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... OMIM:616056
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure, Secondary microcephaly OMIM:309530
Japanese Encephalitis
Cerebral edema, Abnormal caudate nucleus morphology, Abnormal substantia nigra morphology, Abnorm... ORPHA:79139
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Microcephaly, Cortical dysplasia, Focal impaired awareness seizure, Bilateral tonic-clonic seizur... ORPHA:208441
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Myoclonus OMIM:615127
Generalized Epilepsy With Febrile Seizures-Plus
Atonic seizure, Generalized-onset seizure, Generalized cerebral atrophy/hypoplasia, Generalized m... ORPHA:36387
Yoon-Bellen Neurodevelopmental Syndrome
Cerebral atrophy, Microcephaly, Generalized myoclonic-atonic seizure, Hypoplasia of the corpus ca... OMIM:619701
Pontocerebellar Hypoplasia, Type 14
Agenesis of corpus callosum, Focal-onset seizure, Simplified gyral pattern, Bilateral tonic-cloni... OMIM:619301
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... OMIM:254770
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Cerebral atrophy, Chin myoclonus, Aplasia/Hypoplasia of the cor... ORPHA:263516
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Focal-onset seizure, Partial agenesis of the corpus callosum, Simpli... OMIM:619302
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Primary micro... ORPHA:289266
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:101046
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Citrullinemia, Type Ii, Adult-Onset
Cerebral edema OMIM:603471
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Status epilepticus OMIM:613721
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Focal-onset seizure, Diffuse cerebral atrophy, Focal impaired awar... ORPHA:330050
Mitochondrial Complex I Deficiency, Nuclear Type 20
Cerebral edema OMIM:611126
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Pachygyria, Seizure ORPHA:329329
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Atonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Fo... ORPHA:725
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Microcephaly, Generalized non-motor (absence) seizure, Bilateral tonic-cloni... OMIM:619157
Dural Sinus Malformation
Cerebral edema, Hypoplasia of the frontal lobes, Seizure ORPHA:97339
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609253
Febrile Seizures, Familial, 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:604352
Angiostrongyliasis
Cerebral edema, Seizure ORPHA:74
Citrullinemia Type Ii
Cerebral edema, Delayed menarche, Seizure ORPHA:247585
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Citrullinemia, Classic
Cerebral edema, Seizure OMIM:215700
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Hypoplasti... OMIM:619317
Episodic Ataxia, Type 9
Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Growth delay, Abnormal lateral ventricle morphology, Hypoplasia ... ORPHA:488635
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Epilepsy, Pyridoxine-Dependent
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus OMIM:266100
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Short stature OMIM:619639
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Focal-onset seizure, Microcephaly, Hypoplasia of the corpus callosum, Bilatera... OMIM:619616
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Lujo Hemorrhagic Fever
Cerebral edema, Periorbital edema, Generalized edema, Bilateral tonic-clonic seizure, Seizure, Fa... ORPHA:319213
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal aware motor seizure, Focal-onset seizure, Focal myoclonic seizure, Early on... ORPHA:3006
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Cerebral edema, Intrauterine growth retardation OMIM:619355
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Generalized myoclonic seizure,... ORPHA:101039
Chromosome 4Q21 Deletion Syndrome
Postnatal growth retardation, Cerebral hypoplasia OMIM:613509
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal impaired awareness ... OMIM:617831
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
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
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Microcephaly, Postnatal growth retardation, Seizure, Intrauterine growth retardation OMIM:617093
Foxg1 Syndrome
Abnormal corpus callosum morphology, Progressive microcephaly, Agenesis of corpus callosum, Sever... ORPHA:561854
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cerebral edema, Focal-onset seizure, Lissencephaly, Pachygyria, Generalized non-motor (absence) s... ORPHA:258
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Cerebral edema, Abnormality of the basal ganglia, Encephalomala... ORPHA:68
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Salt And Pepper Developmental Regression Syndrome
Microcephaly, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:609056
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... OMIM:605021
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... OMIM:608096
Ethylene Glycol Poisoning
Cerebral edema, Seizure, Myoclonus, Pulmonary edema ORPHA:31826
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Gen... ORPHA:2382
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebral edema, Focal T2 hypointense basal ganglia lesion, Growth delay, Microcephaly, Focal T2 h... OMIM:252010
Familial Infantile Myoclonic Epilepsy
Abnormal hippocampus morphology, Generalized myoclonic seizure, Focal-onset seizure, Thick cerebr... ORPHA:352582
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebral edema ORPHA:99901
Argininosuccinic Aciduria
Cerebral edema, Seizure OMIM:207900
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Tonic seizure, Progressive microcephaly, Focal-onset seizure, Febrile seizure (... OMIM:618917
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Bilateral tonic-clonic seizure with focal onset, Seizure precipitated ... ORPHA:363558
X-Linked Intellectual Disability, Snyder Type
Cerebral edema, Generalized myoclonic seizure, Short stature, Megalencephaly, Focal motor seizure... ORPHA:3063
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Microcephaly, Short stature, Postnatal growth retardation, Edema, Seizure OMIM:612947
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Microcephaly, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Generalized non-... OMIM:616281
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Thin corpus callosum, Hypoplasia of the corpus callosum, Bilateral tonic-clonic... OMIM:300423
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Developmental And Epileptic Encephalopathy 4
Cerebral atrophy, Generalized myoclonic seizure, Generalized tonic seizure, Hypoplasia of the cor... OMIM:612164
Cryptococcosis
Cerebral edema, Seizure, Pleural effusion, Cerebral cortical atrophy ORPHA:1546
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Microcephaly, Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Severe Canavan Disease
Bilateral tonic-clonic seizure, Cerebral white matter atrophy, Seizure, Megalencephaly ORPHA:314911
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus OMIM:613608
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, Generalized non-motor (abse... OMIM:607682
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Generalized myoclonic seizure, Cerebral white matter atrophy, Focal myoclonic s... ORPHA:464282
Seizures, Benign Familial Neonatal, 1
Bilateral tonic-clonic seizure, Focal clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Bilateral tonic-clonic seizure, Dilation of lateral ventricles OMIM:619278
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Microcephaly, Cereb... ORPHA:485350
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Alpers-Huttenlocher Syndrome
Microcephaly, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus ORPHA:726
Landau-Kleffner Syndrome
Atypical absence seizure, Focal myoclonic seizure, Non-convulsive status epilepticus without coma... ORPHA:98818
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Myoclonic Epilepsy Of Infancy
Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, Febrile seizure (within the a... ORPHA:86909
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Basal ganglia gliosis, Intrau... ORPHA:79243
Infantile Cerebellar-Retinal Degeneration
Progressive microcephaly, Focal-onset seizure, Microcephaly, Cerebral cortical atrophy, Hypoplasi... OMIM:614559
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Cerebral atrophy, Focal-onset seizure, Bilateral tonic-clonic s... OMIM:301058
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Short stature, Generalized myoclonic seizure, Bilateral tonic-clonic s... OMIM:617836
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:609800
Episodic Ataxia, Type 5
Atypical absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mon... OMIM:613855
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:79137
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Short stature, Myoclonus OMIM:619065
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Intellectual Developmental Disorder, X-Linked 30
Microcephaly, Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seiz... OMIM:300558
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure with focal onset, Growth ... OMIM:619428
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebral atrophy, Microcephaly, Bilateral tonic-clonic seizure, Generalized non-motor (absence) s... OMIM:618170
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Microcephaly, Bilateral tonic-clonic seizure, Postnatal growth retardation, Palpebral edema ORPHA:79350
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:618856
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Myoclonus OMIM:619191
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Microcephaly, Bilateral tonic-clonic seizure, Cerebral white matter atrophy ORPHA:369840
Dk1-Cdg
Progressive microcephaly, Focal-onset seizure, Short stature, Bilateral tonic-clonic seizure, Sei... ORPHA:91131
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Lafora bodies, Fo... OMIM:254780
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Cerebral atrophy, Atonic seizure, Generalized myoclonic seizure, Focal-onset ... ORPHA:168491
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, Frontotemporal cerebral atrophy, Abnormal cerebral white matter m... ORPHA:275864
Sulfite Oxidase Deficiency, Isolated
Hyperintensity of cerebral white matter on MRI, Bilateral tonic-clonic seizure, Microcephaly, Cer... OMIM:272300
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Short stature, Postnatal growth retardation, Seizure, Punctate periventricular ... ORPHA:309246
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Microcephaly, Abnormal periventricular white matter morphology, Nocturna... OMIM:619725
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Cerebral atrophy ORPHA:457205
Acute Liver Failure
Cerebral edema, Seizure ORPHA:90062
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Myoclonic spasms, Focal T2 hyperintense thalamic lesion, Focal T2 hyperintense ... ORPHA:79264
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:271980
Lafora Disease
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Genera... ORPHA:501
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormal cortical gyration, Atonic seizure, Intrauterine growth retardation, Generalized myocloni... ORPHA:79351
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Growth delay, Focal impaired awareness seizure, Polymicrogyria, Seizure, Bilateral tonic-clonic s... ORPHA:488613
Amish Lethal Microcephaly
Microcephaly, Bilateral tonic-clonic seizure, Agenesis of corpus callosum, Lissencephaly ORPHA:99742
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Microcephaly, Short stature, Bilateral tonic-clonic seizure, Decreased response to growth hormone... ORPHA:457240
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Cessation of head growth, Secondary microcephaly, Bilateral tonic-cloni... ORPHA:98795
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Atonic seizure, Hypoplasia of the corpus callosum ORPHA:93952
Nivelon-Nivelon-Mabille Syndrome
Severe short stature, Focal-onset seizure, Microcephaly, Thin corpus callosum, Bilateral tonic-cl... OMIM:600092
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Generalized myoclonic seizure, ... ORPHA:1947
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Bilater... ORPHA:382
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Bilateral tonic-clonic seizure, Leukoencephalopathy, Corpus callosum atrophy, Secondary microcephaly OMIM:608809
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure, Oligohydramnios, Secondary microcephaly OMIM:616351
Bilateral Polymicrogyria
Generalized-onset seizure, Perisylvian polymicrogyria, Generalized myoclonic seizure, Focal-onset... ORPHA:268940
1Q44 Microdeletion Syndrome
Agenesis of corpus callosum, Growth delay, Microcephaly, Short stature, Bilateral tonic-clonic se... ORPHA:238769
Molybdenum Cofactor Deficiency, Complementation Group C
Bilateral tonic-clonic seizure, Polymicrogyria, Generalized myoclonic seizure, Generalized-onset ... OMIM:615501
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Intrauterine growth retardation, Hypoplasti... ORPHA:2177
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized myoclonic seizure, Focal-onset seizure, Microcephaly, Abnormal periventricular white ... ORPHA:395
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tonic seizure, Thin corpus callosum, Microcephaly, Focal impaired awareness seizure, Epileptic sp... OMIM:619580
Developmental And Epileptic Encephalopathy 41
Microcephaly, Cerebral atrophy, Seizure, Hypoplasia of the corpus callosum OMIM:617105
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Growth delay, Microcephaly, Generalized tonic seizure, Diffuse cerebral atrophy, Hypoplasia of th... OMIM:617193
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Short stature, Hypoplasia of the cor... OMIM:615802
Early Infantile Epileptic Encephalopathy
Atonic seizure, Generalized clonic seizure, Focal-onset seizure, Febrile seizure (within the age ... ORPHA:1934
Chromosome Xp11.3 Deletion Syndrome
Microcephaly, Bilateral tonic-clonic seizure, Short stature OMIM:300578
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized myoclonic seizure, Primary microcephaly, Microcephaly, Cerebral cortical atrophy, Hyp... ORPHA:457351
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure, Short stature, Intrauterine growth retardation, Hypoplasia of the... ORPHA:423479
Intellectual Developmental Disorder, X-Linked 98
Tonic seizure, Atonic seizure, Generalized myoclonic seizure, Secondary microcephaly, Postnatal g... OMIM:300912
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Generalized myoclonic seizure, Infantile spasms, Microcephaly, Generalized... ORPHA:480864
Hermansky-Pudlak Syndrome 10
Microcephaly, Bilateral tonic-clonic seizure, Cerebral atrophy, Focal myoclonic seizure OMIM:617050
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Mosaic Variegated Aneuploidy Syndrome 1
Agenesis of corpus callosum, Intrauterine growth retardation, Generalized myoclonic seizure, Micr... OMIM:257300
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mo... ORPHA:64280
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms, Primary microcephaly ORPHA:478029
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Bilateral tonic-clonic seizure, Elevated circulating luteinizing hormone level, Elevated circulat... ORPHA:3044
Oliver Syndrome
Microcephaly, Bilateral tonic-clonic seizure, Intrauterine growth retardation ORPHA:2920
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Myoclonic spasms, Primary microcephaly, Hypoplasia of the corpus callosum, Bilateral tonic-clonic... ORPHA:447997
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms, Pericardial effusion, Pulmonary edema ORPHA:73224
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Abnormal corpus callosum morphology, Status epilepticus, Microcephaly, Short st... 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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