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
Spastic paraplegia, Spinal cord compression OMIM:608220
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Writ... OMIM:619565
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Spastic gait, Spastic tetraparesis, Spastic dysarthria, D... OMIM:611637
Lissencephaly 1
Lissencephaly, Pachygyria, Spastic tetraparesis, Agyria, Gray matter heterotopia, Subcortical ban... OMIM:607432
Craniofacial Conodysplasia
Hydrocephalus, Spinal cord compression ORPHA:85168
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Spastic tetraplegia, Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, L... OMIM:615411
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Spasticity, Neonatal hypotonia, Pachygyria, Agyria, Gray matter heterotopia, Axial hypotonia ORPHA:1084
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hypotonia, Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Hydroceph... OMIM:618709
Lissencephaly, X-Linked, 1
Lissencephaly, Spasticity, Death in infancy, Pachygyria, Agyria, Gray matter heterotopia, Axial h... 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, Periventricular heterotopia, Generalized hypotonia OMIM:608097
Juvenile Primary Lateral Sclerosis
Spasticity, Abnormal upper motor neuron morphology, Spastic gait, Spastic tetraparesis, Spastic d... ORPHA:247604
Lissencephaly 3
Polymicrogyria, Generalized hypotonia, Periventricular laminar heterotopia, Hypotonia, Pachygyria... OMIM:611603
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Lissencephaly, Polymicrogyria, Self-mutilation, Abnormality of neuronal migration, Aggressive beh... OMIM:604317
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Hypertonia, Pachygyria, Subcortical heterotopia, Lis... ORPHA:1083
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypotonia, Hypertonia, Periventricular ribbonlike heterotopia, Spastic tetraplegia, Lissencephaly OMIM:618677
Chiari Malformation Type Ii
Cervical myelopathy, Generalized hypotonia, Myelomeningocele, Hypotonia, Syringomyelia, Opisthoto... OMIM:207950
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Appendicular spasticity, Spastici... OMIM:606353
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Abnormal posturing, Generalized dystonia, Generalized hypotonia, Hypotonia, Tremor... OMIM:128100
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Spasticity, Polymicrogyria ORPHA:101029
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Mohr-Tranebjaerg Syndrome
Spasticity, Abnormal posturing, Tremor, Dystonia, Dysphagia OMIM:304700
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Hypotonia, Hypertonia ORPHA:2216
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Acalvaria
Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Spinal cord posterior columns myelin loss, Generalized hypotonia, Abn... ORPHA:98756
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hydrocephalus, Polymicrogyria OMIM:604213
Primary Lateral Sclerosis
Spasticity, Progressive spastic paraparesis, Abnormal upper motor neuron morphology, Cervical spi... ORPHA:35689
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Lissencephaly 5
Spastic paraplegia, Occipital encephalocele, Type II lissencephaly, Hypotonia, Hydrocephalus, Gra... OMIM:615191
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Arm dystonia, Amyotrophic lateral sclerosis, Generalized dystonia, Abnormal upper mot... OMIM:205100
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Hypotonia, Attention deficit hyperactivity disorder, Motor s... OMIM:620065
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Generalized hypotonia, Neonatal death, Paucity of anterio... OMIM:611890
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Dysphagia, Amyotrophic lateral sclerosis, Disinhibition OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Dysphagia, Amyotrophic lateral sclerosis, Disinhibition OMIM:616437
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia ORPHA:352682
Band Heterotopia
Spasticity, Polymicrogyria, Hydrocephalus, Gray matter heterotopia, Subcortical band heterotopia OMIM:600348
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Spasticity, Hypertonia ORPHA:1314
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Athetosis, Dysphagia, Amyotrophic lateral sclerosis OMIM:300857
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Polymicrogyria, Attention deficit hyperactivity disorder, Infantile mus... ORPHA:300573
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Abnormal posturing, Generalized dystonia, Opisthotonus, Attention deficit hyperactivi... ORPHA:216866
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Abnormal low... OMIM:602433
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Progressive extrapyramidal muscular rigidity, Resting tremor, Infantile axial... ORPHA:225147
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Spastic paraplegia, Dysphagia, Spastic tetraplegia OMIM:607225
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Neurogenic bladder, Orthostatic hypotension OMIM:263570
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand tremor, Postural tremor, Restless legs, Hydrocephalus, Abnormal spinal cord morphology ORPHA:99947
Cerebral Palsy, Spastic Quadriplegic, 3
Spasticity, Gray matter heterotopia, Dysphagia, Spastic tetraplegia, Spastic diplegia OMIM:617008
Autosomal Dominant Spastic Paraplegia Type 41
Spinal cord lesion, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia ORPHA:320355
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Dysphagia, Tremor ORPHA:2590
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Spasticity, Abnormal spinal cord morphology, Progressive spastic paraplegia ORPHA:139578
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Spasticity, Amyotrophic lateral sclerosis OMIM:602099
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Spasticity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Lower limb spa... OMIM:613954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Hypotonia, Pachygyria, Generalized hypotonia OMIM:608840
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Spasticity, Intention tremor OMIM:215470
Leber Congenital Amaurosis
Abnormality of neuronal migration, Hypotonia, Encephalocele ORPHA:65
Huntington Disease-Like 1
Restlessness, Abnormal posturing, Generalized hypotonia ORPHA:157941
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Disinhibition, Abnormal lower motor neuron morphology, Ab... ORPHA:275872
Lissencephaly 6 With Microcephaly
Spasticity, Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Limb hypertonia, Pac... OMIM:616212
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Abnormal neuron morphology, Polymicrogyria ORPHA:99802
Lissencephaly Syndrome, Norman-Roberts Type
Abnormal muscle tone, Abnormality of neuronal migration, Microlissencephaly, Dysphagia, 4-layered... ORPHA:89844
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Inappropriate behavior, Abnormal upper motor neuron morphology, Disinhibition, Aggres... OMIM:221770
Subependymal Nodular Heterotopia
Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality of neuronal migration, Nas... ORPHA:101030
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Generalized hypotonia, Type II lissencephaly, Polymicrogyria, Hypotonia, Encephalocele, Death in ... OMIM:614643
Neurocutaneous Melanocytosis
Syringomyelia, Meningocele, Abnormality of neuronal migration, Death in infancy ORPHA:2481
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Neonatal hypotonia, Generalized hypotonia ORPHA:370980
Brain Small Vessel Disease 2
Subcortical heterotopia, Spastic tetraplegia, Polymicrogyria OMIM:614483
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Abnormal spinal cord morphology ORPHA:494
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hypotonia, Self-mutilation, Stereotypical hand wringing, Abnormality of... ORPHA:163681
Glutathionuria
Gray matter heterotopia, Action tremor, Tremor OMIM:231950
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness ORPHA:100070
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
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Hypotonia, Spasticity, Tremor OMIM:300957
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Abnormal upper motor... OMIM:606070
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia, Generalized hypotonia OMIM:618273
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hypotonia, Abnormal posturing OMIM:614857
Thanatophoric Dysplasia Type 2
Hypotonia, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly ORPHA:93274
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Cranial nerve compression ORPHA:52430
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Hypotonia, Generalized hypotonia OMIM:615960
Periventricular Nodular Heterotopia 7
Polymicrogyria, Periventricular nodular heterotopia, Hypotonia, Gray matter heterotopia, Axial hy... OMIM:617201
Joubert Syndrome 30
Gray matter heterotopia, Hypotonia, Polymicrogyria OMIM:617622
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Simplified gyral pattern OMIM:616171
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus, Hypertonia ORPHA:1895
Peroxisome Biogenesis Disorder 13A (Zellweger)
Polymicrogyria, Generalized hypotonia, Hypotonia, Neonatal death, Gray matter heterotopia, Axial ... OMIM:614887
Infantile-Onset X-Linked Spinal Muscular Atrophy
Infantile muscular hypotonia, Abnormal anterior horn cell morphology, Degeneration of anterior ho... ORPHA:1145
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Joubert Syndrome
Polymicrogyria, Hypotonia, Encephalocele, Tremor, Abnormality of neuronal migration, Hydrocephalus ORPHA:475
Unilateral Polymicrogyria
Abnormal posturing, Pseudobulbar paralysis, Appendicular hypotonia, Spastic tetraplegia, Axial hy... ORPHA:268943
Machado-Joseph Disease Type 3
Spasticity, Spinocerebellar tract degeneration, Abnormal lower motor neuron morphology, Dystonia,... ORPHA:276244
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Abnormal spinal cord morphology, Generalized hypotonia ORPHA:88628
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Hypotonia ORPHA:44
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Hypotonia, Abnormality of neuronal migration, Hydroce... ORPHA:899
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Fragile X Syndrome
Periventricular heterotopia, Recurrent hand flapping, Hyperactivity, Self-biting OMIM:300624
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Resting tremor, Abnormal upper motor neuron morphology, Lower limb spasticity... OMIM:601162
Man1B1-Cdg
Polyphagia, Periventricular heterotopia, Resting tremor, Infantile muscular hypotonia ORPHA:397941
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Spasticity OMIM:619694
Radio-Tartaglia Syndrome
Hypotonia, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Gray... OMIM:619312
Galloway-Mowat Syndrome
Hypotonia, Abnormality of neuronal migration, Hypertonia, Pachygyria, Aqueductal stenosis ORPHA:2065
Thanatophoric Dysplasia
Gray matter heterotopia, Hypotonia, Hydrocephalus ORPHA:2655
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hypotonia, Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Si... OMIM:615219
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hypotonia, Hydrocephalus, Neonatal death OMIM:187600
9Q21.13 Microdeletion Syndrome
Syringomyelia, Gray matter heterotopia ORPHA:531151
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Generalized dystonia, Tremor, Abnormal lower motor neuron morphology, Oromandibular d... OMIM:614298
Alg11-Cdg
Opisthotonus, Limb hypertonia, Infantile muscular hypotonia, Hypertonia, Gray matter heterotopia,... ORPHA:280071
Desmosterolosis
Spasticity, Abnormal cortical gyration, Polymicrogyria, Rigidity, Abnormality of neuronal migrati... ORPHA:35107
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Abnormal spinal cord morphology ORPHA:53721
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Hypotonia, Neonatal death, Frontal polymicrogyria, Hypertonia, Pachygyria, Dystonia, Gray matter ... OMIM:620024
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Opisthotonus, Spin... ORPHA:2671
Spinal Cord Injury
Syringomyelia, Spinal cord lesion, Spasticity, Allodynia ORPHA:90058
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele OMIM:164180
Vici Syndrome
Gray matter heterotopia, Hypotonia, Dysphagia, Abnormal posturing OMIM:242840
Li-Ghorbani-Weisz-Hubshman Syndrome
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618974
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hydrocephalus, Gray matter hetero... ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Spasticity, Hydromyelia, Occipital encephalocele, Type II lissencephaly, Hypotonia, Severe muscul... OMIM:615287
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Hydrocephalus, Hypotonia, Encephalocele ORPHA:2318
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Hypotonia, Periventricular heterotopia, Aggressive behavior, Hydrocephalus OMIM:619833
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
3C Syndrome
Abnormality of neuronal migration, Hypotonia, Hydrocephalus, Death in infancy ORPHA:7
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Lower limb spasticity, Abnormal spinal cord morphology, Hyperactivity, Spastic tetrap... ORPHA:139396
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
16P13.11 Microdeletion Syndrome
Self-injurious behavior, Abnormality of neuronal migration, Hypertonia, Compulsive behaviors, Hol... ORPHA:261236
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypotonia, Dystonia, Periventricular heterotopia OMIM:614105
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Hypotonia, Dysphagia, Polymicrogyria OMIM:619775
Japanese Encephalitis
Pill-rolling tremor, Cogwheel rigidity, Tremor, Opisthotonus, Hypertonia, Anorexia, Paucity of an... ORPHA:79139
Coffin-Lowry Syndrome
Self-injurious behavior, Hypotonia, Death in early adulthood, Abnormality of neuronal migration, ... ORPHA:192
Vici Syndrome
Gray matter heterotopia, Hypotonia, Death in infancy ORPHA:1493
Bilateral Perisylvian Polymicrogyria
Spasticity, Bilateral perisylvian polymicrogyria, Perisylvian predominant thick cortex pachygyria... ORPHA:98889
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Hypotonia, Periventricular heterotopia ORPHA:255138
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m... ORPHA:2211
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hypotonia, Tremor, Abnormality of neuronal migration, Hydrocephalus ORPHA:1454
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Periventricular heterotopia, Impulsivity, Attention deficit hyperactivit... OMIM:618929
Van Maldergem Syndrome 1
Generalized hypotonia, Periventricular nodular heterotopia, Hypotonia, Pachygyria, Gray matter he... OMIM:601390
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Hydrocephalus, Lissencephaly, Generalized hypotonia OMIM:617822
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria, Generalized hypotonia OMIM:617397
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal hypotonia, Polymicrogyria, Hypotonia, Death in infancy, Abnormality of neuronal migration OMIM:608836
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Hypertonia ORPHA:2518
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hypotonia, Hydrocephalus ORPHA:1860
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia, Neonatal hypotonia, Generalized hypotonia OMIM:608624
Holoprosencephaly
Spasticity, Spinal dysraphism, Hypotonia, Encephalocele, Abnormality of neuronal migration, Hydro... ORPHA:2162
Galloway-Mowat Syndrome 1
Spasticity, Hypotonia, Abnormality of neuronal migration, Pachygyria, Dystonia, Spastic tetrapleg... OMIM:251300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Generalized hypotonia, Abnormality of neuronal migration, Hydrocephalus, Pachygyria ORPHA:228308
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Spasticity, Inappropriate laughter, Periventricular heterotopia, Rigidity, Hydrocephalus, Spastic... OMIM:618476
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Hypotonia, Spasticity OMIM:618797
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Hypotonia, Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618870
Holoprosencephaly 14
Alobar holoprosencephaly, Generalized hypotonia, Periventricular heterotopia, Hydrocephalus, Gray... OMIM:619895
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Polymicrogyria ORPHA:157
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Hypotonia OMIM:617563
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Generalized hypotonia, Hypotonia, Death in childhood, Gray matter heterotopia, Dy... OMIM:214100
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Hypotonia, Dysphagia ORPHA:26791
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Spasticity, Polymicrogyria, Infantile axial hypotonia, Periventricular h... ORPHA:468631
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Syringomyelia, Bruxism, Hypotonia, Gray matter heterotopia ORPHA:453499
Pagod Syndrome
Encephalocele, Death in infancy, Abnormality of neuronal migration, Spina bifida, Meningocele ORPHA:991
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Hypotonia, Tremor, Generalized hypotonia ORPHA:2754
Adrenomyeloneuropathy
Spasticity, Progressive spastic paraparesis, Dorsal column degeneration, Atrophy of the spinal co... ORPHA:139399
Miller-Dieker Lissencephaly Syndrome
Progressive spastic paraplegia, Pachygyria, Infantile muscular hypotonia, Gray matter heterotopia... OMIM:247200
Aicardi Syndrome
Polymicrogyria, Generalized hypotonia, Hypotonia, Spina bifida, Pachygyria, Gray matter heterotopia OMIM:304050
Acute Disseminated Encephalomyelitis
Aggressive behavior, Myelitis, Abnormal spinal cord morphology ORPHA:83597
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Opitz-Kaveggia Syndrome
Spasticity, Neonatal hypotonia, Hypotonia, Attention deficit hyperactivity disorder, Hydrocephalu... OMIM:305450
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia, Lower limb spasticity OMIM:620475
Koolen-De Vries Syndrome
Gray matter heterotopia, Hyperactivity, Impulsivity, Generalized hypotonia OMIM:610443
Cerebrofacioarticular Syndrome
Self-injurious behavior, Gray matter heterotopia, Infantile muscular hypotonia ORPHA:314679
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Hypotonia, Subcortical band heterot... OMIM:615546
6Q Terminal Deletion Syndrome
Polymicrogyria, Periventricular heterotopia, Abnormality of neuronal migration, Infantile muscula... ORPHA:75857
Bohring-Opitz Syndrome
Gray matter heterotopia, Hypotonia OMIM:605039
Arima Syndrome
Polydipsia, Generalized hypotonia, Hypotonia, Gray matter heterotopia, Occipital meningocele OMIM:243910
Superficial Siderosis
Atrophy of the spinal cord, Abnormal spinal cord morphology, Dysgyria ORPHA:247245
Periventricular Nodular Heterotopia 9
Polymicrogyria, Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Co... OMIM:618918
Tetrasomy 9P
Inappropriate behavior, Generalized hypotonia, Polymicrogyria, Pachygyria, Hydrocephalus, Abnorma... ORPHA:3310
Mosaic Trisomy 20
Hypotonia, Abnormal spinal cord morphology, Infantile muscular hypotonia ORPHA:1724
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Gray matter heterotopia, Hypotonia OMIM:620654
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Dysphagia ORPHA:261250
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Generalized hypotonia OMIM:618733
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:464311
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Abnormal spinal cord morphology, Spina bifida, Hydrocephalus, Sp... ORPHA:2369
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Polymicrogyria, Pachygyria, Death in childhood, Death in infancy, Mic... OMIM:210710
Orofaciodigital Syndrome I
Myelomeningocele, Abnormal cortical gyration, Gray matter heterotopia, Hydrocephalus OMIM:311200
Fontaine Progeroid Syndrome
Generalized hypotonia, Periventricular heterotopia, Death in infancy, Neonatal death, Hydrocephal... OMIM:612289
Smith-Lemli-Opitz Syndrome
Generalized hypotonia, Hypotonia, Periventricular heterotopia, Self-mutilation, Death in infancy,... OMIM:270400
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Attention deficit hyperactivity disorder, Holoprosencephaly, Polymicrogyria OMIM:618820
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Bruxism, Hypotonia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Bruxism, Hypotonia ORPHA:352665
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Holoprosencephaly ORPHA:3186
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, Stillbirth, Gray matter heterotopia, Anencephaly, Severe hydrocephalus OMIM:236680
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Polymicrogyria, Generalized hypotonia, Periventricular heterotopia, Holo... OMIM:615948
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia, Encephalocele OMIM:603671
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Genitopatellar Syndrome
Generalized hypotonia, Hypotonia, Periventricular heterotopia, Pachygyria, Dysphagia 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
Spasticity, Polymicrogyria, Bruxism, Periventricular heterotopia, Dysphagia, Infantile muscular h... ORPHA:261537
Mowat-Wilson Syndrome
Spasticity, Polymicrogyria, Bruxism, Hypotonia, Periventricular heterotopia, Dysphagia, Motor ste... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Spasticity, Polymicrogyria, Bruxism, Periventricular heterotopia, Dysphagia, Infantile muscular h... 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

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