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