Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
oligodendrocyte transcription factor 2
Synonyms:
Bhlhb1,  bHLHe19,  RK17,  Olg-2

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 Olig2 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 Olig2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spastic Paraplegia 25, Autosomal Recessive
Spinal cord compression, Spastic paraplegia OMIM:608220
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Dysphagia, Abnormal posturing, ... OMIM:619565
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron morphology, Spas... OMIM:611637
Lissencephaly 1
Axial hypotonia, Spastic tetraparesis, Subcortical band heterotopia, Gray matter heterotopia, Lis... OMIM:607432
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Spastic tetraplegia, Gray matter heterotopia, Lissencephaly, Pachyg... OMIM:615411
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Hypotonia, Abnormality of neuronal migration, Attention deficit hyperactivity diso... OMIM:618709
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Axial hypotonia, Gray matter heterotopia, Neonatal hypotonia, Spasticity, Pachygyria, Agyria ORPHA:1084
Lissencephaly, X-Linked, 1
Death in infancy, Axial hypotonia, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygyria... OMIM:300067
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Hypotonia, Generalized hypotonia, Periventricular heterotopia OMIM:608097
Juvenile Primary Lateral Sclerosis
Spastic tetraparesis, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron morphology, Spas... ORPHA:247604
Lissencephaly 3
Agyria, Periventricular laminar heterotopia, Hypotonia, Spastic tetraplegia, Gray matter heteroto... OMIM:611603
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Spastic tetraparesis, Aggressive behavior, Impulsivity, Polymicrogyria, Simplified... OMIM:604317
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Hypertonia, Lisse... ORPHA:1083
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypotonia, Spastic tetraplegia, Hypertonia, Lissencephaly, Periventricular ribbonlike heterotopia OMIM:618677
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Hypotonia, Opisthotonus, Cervical myelopathy, Gray... OMIM:207950
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Spastic dysarthria, Pseudobulbar paralysis, Spasti... OMIM:606353
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Torsion dystonia, Hypotonia, Blepharos... OMIM:128100
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Spasticity, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Spasticity, Dysphagia, Abnormal posturing OMIM:304700
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration ORPHA:945
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Progressive spastic parapares... ORPHA:35689
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Polymicrogyria OMIM:604213
Spinocerebellar Ataxia Type 2
Kinetic tremor, Postural tremor, Abnormal cortical gyration, Spinal cord posterior columns myelin... ORPHA:98756
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Spastic paraplegia, Spastic tetraplegia, Dysphagia OMIM:607225
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Spastic paraplegia, Subcortical band heterotopia, Hypoton... OMIM:615191
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Hypotonia, Attention deficit... OMIM:620065
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Gen... OMIM:205100
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Generalized hypot... OMIM:611890
Maternal Hyperthermia-Induced Birth Defects
Hypertonia, Hypotonia, Abnormality of neuronal migration ORPHA:2216
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly ORPHA:352682
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Spasticity, Polymicrogyria OMIM:600348
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia OMIM:616437
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Symmetrical Thalamic Calcifications
Spasticity, Hypertonia, Abnormality of neuronal migration ORPHA:1314
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Attention deficit hyperactivi... ORPHA:300573
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Dysphagia, Dystonia OMIM:300857
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Infantile axial hypotonia, Dysphagia, Titubation, Dystonia, Progressive extrapyra... ORPHA:225147
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Spasticity, Opisthotonus, Attention deficit hyperactivity disorder, Dysphag... ORPHA:216866
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness OMIM:611067
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Postural tremor, Abnormal spinal cord morphology, Hydrocephalus, Hand tremor ORPHA:99947
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Orthostatic hypotension, Neurogenic bladder OMIM:263570
Congenital Muscular Dystrophy Without Intellectual Disability
Neonatal hypotonia, Gray matter heterotopia, Pachygyria, Generalized hypotonia ORPHA:370980
Cerebral Palsy, Spastic Quadriplegic, 3
Spastic tetraplegia, Spastic diplegia, Gray matter heterotopia, Dysphagia, Spasticity OMIM:617008
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... OMIM:602099
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology, Spastic paraplegia, Spasticity, Progressive spastic paraplegia ORPHA:139578
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Dys... OMIM:613954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Hypotonia, Generalized hypotonia, Abnormality of neuronal migration OMIM:608840
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Leber Congenital Amaurosis
Encephalocele, Hypotonia, Abnormality of neuronal migration ORPHA:65
Huntington Disease-Like 1
Restlessness, Abnormal posturing, Generalized hypotonia ORPHA:157941
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Spasticity, Intention tremor OMIM:215470
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology ORPHA:99802
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Simplified gyral pattern, Microlissencephaly, Lissencephaly, Spastic... OMIM:616212
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Tremor, Dysphagia ORPHA:2590
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... ORPHA:101030
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Abnormal muscle t... ORPHA:89844
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal upper motor neuron morpholog... OMIM:221770
Neurocutaneous Melanocytosis
Death in infancy, Meningocele, Syringomyelia, Abnormality of neuronal migration ORPHA:2481
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in infancy, Subcortical heterotopia, Agyria, Hydrocephalus, Hypotonia, Gray ... OMIM:614643
Glutathionuria
Tremor, Gray matter heterotopia, Action tremor OMIM:231950
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia, Spastic tetraplegia OMIM:614483
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Disinhibition, Dysphagia, Abnormal upper motor neuron mor... ORPHA:275872
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Abnormal spinal cord morphology ORPHA:494
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hyperactivity, Aggressive behavior, Abnormal neuron morphology, Hypotonia,... ORPHA:163681
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Hypotonia, Abnormality of neuronal migration, Holoprosencephaly ORPHA:93274
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Generalized hypotonia, Periventricular heterotopia OMIM:618273
Intellectual Developmental Disorder, X-Linked 12
Tremor, Spasticity, Hypotonia, Abnormality of neuronal migration OMIM:300957
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... OMIM:606070
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Hypotonia OMIM:614857
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology ORPHA:52430
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Hypotonia, Generalized hypotonia OMIM:615960
Periventricular Nodular Heterotopia 7
Axial hypotonia, Hypotonia, Gray matter heterotopia, Periventricular nodular heterotopia, Polymic... OMIM:617201
Edinburgh Malformation Syndrome
Hydrocephalus, Hypertonia, Abnormality of neuronal migration ORPHA:1895
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Periventricular heterotopia OMIM:616171
Peroxisome Biogenesis Disorder 13A (Zellweger)
Axial hypotonia, Hypotonia, Gray matter heterotopia, Generalized hypotonia, Neonatal death, Polym... OMIM:614887
Walker-Warburg Syndrome
Abnormal cortical gyration, Hydrocephalus, Hypotonia, Abnormality of neuronal migration, Macrogyr... ORPHA:899
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Generalized hypotoni... ORPHA:1145
Joubert Syndrome
Encephalocele, Tremor, Hydrocephalus, Hypotonia, Abnormality of neuronal migration, Polymicrogyria ORPHA:475
O'Sullivan-Mcleod Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Atrophy of the spinal cord, Tremor ORPHA:99965
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Abnormal spinal cord morphology, Generalized hypotonia ORPHA:88628
Neonatal Adrenoleukodystrophy
Hypotonia, Abnormality of neuronal migration ORPHA:44
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Dysphagia, Degeneration of anterior horn cells, Spinocere... ORPHA:276244
Unilateral Polymicrogyria
Axial hypotonia, Perisylvian polymicrogyria, Spastic tetraplegia, Appendicular hypotonia, Pseudob... ORPHA:268943
Joubert Syndrome 30
Gray matter heterotopia, Hypotonia OMIM:617622
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Periventricular heterotopia, Self-biting OMIM:300624
Desmosterolosis
Abnormal cortical gyration, Rigidity, Hydrocephalus, Abnormality of neuronal migration, Macrogyri... ORPHA:35107
Spastic Paraplegia 9A, Autosomal Dominant
Resting tremor, Lower limb spasticity, Spastic paraplegia, Abnormal upper motor neuron morphology... OMIM:601162
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Respiratory insufficiency ORPHA:93941
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus, Hypotonia ORPHA:2655
Galloway-Mowat Syndrome
Aqueductal stenosis, Hypotonia, Abnormality of neuronal migration, Hypertonia, Pachygyria ORPHA:2065
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Tremor, Hypotonia, Gray matter heterotopia, Attention deficit h... OMIM:619312
Man1B1-Cdg
Resting tremor, Periventricular heterotopia, Polyphagia, Infantile muscular hypotonia ORPHA:397941
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Spasticity OMIM:619694
Thanatophoric Dysplasia, Type I
Neonatal death, Gray matter heterotopia, Hydrocephalus, Hypotonia OMIM:187600
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Hypotonia, Gray matter hete... OMIM:615219
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Syringomyelia ORPHA:531151
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Generalized dystonia, Impulsivity, Tremor, Dystonia, Orom... OMIM:614298
Neu-Laxova Syndrome
Abnormal cortical gyration, Spina bifida, Abnormality of neuronal migration, Macrogyria, Opisthot... ORPHA:2671
Alg11-Cdg
Axial hypotonia, Opisthotonus, Gray matter heterotopia, Hypertonia, Infantile muscular hypotonia,... ORPHA:280071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Severe muscular hypotonia, Hydrocephalus, A... OMIM:615287
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Hypotonia, Spastic tetraplegia, Gray matter heterotopia, Hypertonia, Dyst... OMIM:620024
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele OMIM:164180
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Hypotonia, Abnormality of neuronal migration ORPHA:2318
Li-Ghorbani-Weisz-Hubshman Syndrome
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618974
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Type II lissence... ORPHA:370959
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Aggressive behavior, Hydrocephalus, Hypotonia, Self-injurious behavior OMIM:619833
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
3C Syndrome
Death in infancy, Hydrocephalus, Hypotonia, Abnormality of neuronal migration ORPHA:7
Vici Syndrome
Gray matter heterotopia, Abnormal posturing, Hypotonia, Dysphagia OMIM:242840
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog... ORPHA:2211
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Self-injurious behavior, Hypertonia, Holoprosencephaly, Compul... ORPHA:261236
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Hypotonia, Dystonia OMIM:614105
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Hyperactivity, Spastic tetraparesis, Myelopathy, Abnormal spinal cord morp... ORPHA:139396
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria, Hypotonia, Dysphagia OMIM:619775
Coffin-Lowry Syndrome
Death in early adulthood, Hypotonia, Abnormality of neuronal migration, Self-injurious behavior, ... ORPHA:192
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Perisylvian predominant thick cortex pachygyria, Spastic tetraplegia, Dysp... ORPHA:98889
Vici Syndrome
Gray matter heterotopia, Death in infancy, Hypotonia ORPHA:1493
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Hypotonia, Periventricular heterotopia ORPHA:255138
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Anorexia, Paucity of anterior horn motor neur... ORPHA:79139
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Tremor, Hydrocephalus, Hypotonia, Abnormality of neuronal migration ORPHA:1454
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Hydrocephalus, Lissencephaly, Generalized hypotonia OMIM:617822
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Axial hypotonia, Impulsivity, Periventricular heterotopia, Self-injurious behavior, Attention def... OMIM:618929
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Hypotonia, Gray matter heterotopia, Gener... OMIM:601390
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus, Hypotonia ORPHA:1860
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Hypotonia, Abnormality of neuronal migration, Neonatal hypotonia, Polymicrogyria OMIM:608836
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Hypertonia, Abnormality of neuronal migration ORPHA:2518
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria, Generalized hypotonia OMIM:617397
Holoprosencephaly
Encephalocele, Hydrocephalus, Spinal cord tumor, Hypotonia, Spinal dysraphism, Abnormality of neu... ORPHA:2162
Holoprosencephaly 14
Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, Hydrocephalus, Gray m... OMIM:619895
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Rigidity, Hydrocephalus, Spastic tetraplegia, Inappropriate laughter... OMIM:618476
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypotonia, Gray matter heterotopia, Generalized hypotonia OMIM:608624
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Generalized hypotonia, Polymicrogyria ORPHA:228308
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Spasticity, Hypotonia OMIM:618797
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Hypotonia, Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618870
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Hydrocephalus, Pachygyria, Abnormality of neuronal migration ORPHA:157
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Hypotonia OMIM:617563
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypotonia, Dysphagia, Gray matter heterotopia, Generalized hypotonia, Death in childhood, Polymic... OMIM:214100
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Simplified gyral pattern, Lobar holoprosencephaly, Self-injurious be... ORPHA:468631
Pagod Syndrome
Encephalocele, Death in infancy, Spina bifida, Meningocele, Abnormality of neuronal migration ORPHA:991
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Hypotonia, Dysphagia ORPHA:26791
Orofaciodigital Syndrome Type 6
Tremor, Hypotonia, Generalized hypotonia, Abnormality of neuronal migration ORPHA:2754
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Syringomyelia, Hypotonia, Bruxism ORPHA:453499
Adrenomyeloneuropathy
Atrophy of the spinal cord, Abnormal spinal cord morphology, Progressive spastic paraparesis, Dor... ORPHA:139399
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness ORPHA:100070
Aicardi Syndrome
Spina bifida, Hypotonia, Gray matter heterotopia, Generalized hypotonia, Pachygyria, Polymicrogyria OMIM:304050
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Lissencephaly, Infantile muscular hypotonia, Pachygyria, Agyria, Progres... OMIM:247200
Acute Disseminated Encephalomyelitis
Abnormal spinal cord morphology, Myelitis, Aggressive behavior ORPHA:83597
Opitz-Kaveggia Syndrome
Hydrocephalus, Hypotonia, Gray matter heterotopia, Attention deficit hyperactivity disorder, Neon... OMIM:305450
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Self-injurious behavior, Infantile muscular hypotonia ORPHA:314679
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Hypot... OMIM:615546
Koolen-De Vries Syndrome
Gray matter heterotopia, Hyperactivity, Impulsivity, Generalized hypotonia OMIM:610443
Bohring-Opitz Syndrome
Gray matter heterotopia, Hypotonia OMIM:605039
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Infantil... ORPHA:75857
Arima Syndrome
Hypotonia, Gray matter heterotopia, Generalized hypotonia, Occipital meningocele, Polydipsia OMIM:243910
Superficial Siderosis
Atrophy of the spinal cord, Abnormal spinal cord morphology, Dysgyria ORPHA:247245
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Attention deficit hyperactivity disorder, Compulsive behaviors, Perivent... OMIM:618918
Mosaic Trisomy 20
Abnormal spinal cord morphology, Hypotonia, Infantile muscular hypotonia ORPHA:1724
Tetrasomy 9P
Hyperactivity, Abnormal spinal cord morphology, Hydrocephalus, Inappropriate behavior, Lissenceph... ORPHA:3310
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Dysphagia ORPHA:261250
Neuromuscular Oculoauditory Syndrome
Generalized hypotonia, Periventricular heterotopia OMIM:618733
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal repetitive mannerisms, Abnormality of neuronal migration, Attention deficit hyperactivit... ORPHA:464311
Limb Body Wall Complex
Encephalocele, Spina bifida, Abnormal spinal cord morphology, Myelomeningocele, Hydrocephalus, An... ORPHA:2369
Acromelic Frontonasal Dysostosis
Encephalocele, Gray matter heterotopia, Periventricular nodular heterotopia OMIM:603671
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Abnormal cortical gyration, Hydrocephalus, Microlissencephaly, Gray matter hete... OMIM:210710
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Polymicrogyria, Holoprosencephaly, Attention deficit hyperactivity disorder OMIM:618820
Smith-Lemli-Opitz Syndrome
Death in infancy, Hyperactivity, Aggressive behavior, Periventricular heterotopia, Hydrocephalus,... OMIM:270400
Orofaciodigital Syndrome I
Gray matter heterotopia, Myelomeningocele, Abnormal cortical gyration, Hydrocephalus OMIM:311200
Fontaine Progeroid Syndrome
Death in infancy, Periventricular heterotopia, Hydrocephalus, Gray matter heterotopia, Generalize... OMIM:612289
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:3186
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Hypotonia, Bruxism ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Hypotonia, Bruxism ORPHA:352665
Amoebiasis Due To Free-Living Amoebae
Restlessness, Abnormal spinal cord morphology ORPHA:68
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Attention deficit hyperactivity disorder ORPHA:647
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Severe hydrocephalus OMIM:236680
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Periventricular heterotopia, Simplified gyral pattern, Holoprosencephaly... OMIM:615948
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Genitopatellar Syndrome
Periventricular heterotopia, Hypotonia, Generalized hypotonia, Dysphagia, Pachygyria OMIM:606170
Primary Sjögren Syndrome
Abnormal spinal cord morphology ORPHA:289390
Orofaciodigital Syndrome Type 14
Hypotonia, Periventricular heterotopia ORPHA:434179
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Dysphagia, Bruxism, Spasticity, Polymicrogyria, Abnormal repetitive ... ORPHA:261537
Mowat-Wilson Syndrome
Periventricular heterotopia, Hypotonia, Bruxism, Dysphagia, Spasticity, Polymicrogyria, Abnormal ... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Dysphagia, Bruxism, Spasticity, Polymicrogyria, Abnormal repetitive ... ORPHA:261552

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 Olig2

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 Olig2.

No publications found that use IMPC mice or data for Olig2.

Order Mouse and ES Cells

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
Olig2em1(IMPC)Ics Deletion Mice
Olig2tm270519(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Olig2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter