Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
neurogenin 2
Synonyms:
Math4A,  Atoh4,  bHLHa8,  ngn2

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 Neurog2 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 Neurog2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Chudley-Mccullough Syndrome
Polymicrogyria, Cerebellar dysplasia, Hydrocephalus, Partial agenesis of the corpus callosum, Gra... OMIM:604213
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Subcortical band heterotopia OMIM:615411
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Abnormal motor neuron morphology, Decreased motor nerve conduction ve... DECIPHER:29
Lissencephaly 1
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Subcortical band heterotopia OMIM:607432
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Lissencephaly, X-Linked, 1
Death in infancy, Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Agenesis of corpus ... OMIM:300067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Neural tube defect, Cerebellar dysplasia OMIM:615041
Lissencephaly 3
Polymicrogyria, Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Periventricular lamin... OMIM:611603
Microlissencephaly
Polymicrogyria, Simplified gyral pattern, Subcortical heterotopia, Pachygyria, Lissencephaly, Cer... ORPHA:1083
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Subcortical heter... ORPHA:101029
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Loss of ambulation, Abnormal upper motor neuron morphology, Dysphagia, De... OMIM:606353
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Periventricular nodular heterotopia OMIM:618185
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Inability to walk, Abnormal peripheral action potential... ORPHA:90117
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Inability to walk, Facial diplegia, Paucity of anterior h... OMIM:611890
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Gray matter heterotopia, Dysgyria,... ORPHA:352682
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus OMIM:618709
Band Heterotopia
Polymicrogyria, Hydrocephalus, Lateral ventricle dilatation, Gray matter heterotopia, Agenesis of... OMIM:600348
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Lissencephaly, Periventricular ribbonlike heterotopia, Cerebellar hypoplasia OMIM:618677
Juvenile Primary Lateral Sclerosis
Dysphagia, Gait imbalance, Abnormal upper motor neuron morphology, Spastic gait ORPHA:247604
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Cerebellar hypoplasia OMIM:618572
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Diffuse axonal swelling, Atrophy of the spinal cord, Abnormal lower motor neu... OMIM:602433
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Unsteady gait, Progressive cerebellar ataxia, Abnormal lower motor neuron morphology... ORPHA:95434
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Polyglucosan Body Neuropathy, Adult Form
Gait disturbance, Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, Orthostat... OMIM:263570
Acalvaria
Spina bifida, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Abnormality... ORPHA:945
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Motor axonal neuropathy, Sensory axonal neuropathy, Short stature, Amyotrophic lateral sclerosis,... ORPHA:52430
Lissencephaly 5
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Gray matter heterotopia, Subcortic... OMIM:615191
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology ORPHA:397725
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Simplified gyral pattern, Gray matter heterotopia, Pachygyria, Lissencephaly, Abn... OMIM:604317
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Hypoplasia of the pons, Lateral ventricle dilatation, Gray matter heterotopia, Pa... ORPHA:300573
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Subependymal Nodular Heterotopia
Polymicrogyria, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, Occipital... ORPHA:101030
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology, Waddling gait, Difficulty walking OMIM:611067
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Dystonia 31
Dysphagia, Abnormal posturing, Difficulty walking OMIM:619565
Hemimegalencephaly
Polymicrogyria, Abnormal neuron morphology, Gray matter heterotopia, Gliosis, Pachygyria ORPHA:99802
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Gait disturbance, Attention deficit hyperactivity disorder, Optic disc pallor,... ORPHA:216866
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
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
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Partial agenesis of the corpus callosum, Hypoplasia of the pons, Simplified gyral pattern, Cerebe... OMIM:616171
Primary Lateral Sclerosis
Motor axonal neuropathy, Atrophy of the spinal cord, Abnormal lower motor neuron morphology, Cerv... ORPHA:35689
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion OMIM:619057
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Polymicrogyria, Neonatal death OMIM:619602
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Difficulty walking, Abnormal lower motor neuron morphology, Dysphagia, Waddlin... ORPHA:2590
Lissencephaly 6 With Microcephaly
Polymicrogyria, Partial agenesis of the corpus callosum, Microlissencephaly, Simplified gyral pat... OMIM:616212
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Abnormal upper motor... OMIM:606070
Alexander Disease Type I
Abnormal thalamic MRI signal intensity ORPHA:363717
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Disinhibition, Abnormal lower motor neuron morphology, Abnormal up... ORPHA:275872
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gait disturbance, Disinhibition, Abnormal upper motor neuron morphology, Peripheral demyelination... OMIM:221770
Tubulinopathy-Associated Dysgyria
Abnormality of thalamus morphology ORPHA:467166
Leber Congenital Amaurosis
Encephalocele, Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of neuronal migration ORPHA:65
Amyotrophic Lateral Sclerosis 2, Juvenile
Ataxia, Difficulty walking, Abnormal lower motor neuron morphology, Abnormal upper motor neuron m... OMIM:205100
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Miscarriage, T2 hypointense thalamus ORPHA:1947
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar cyst, Cerebellar atrophy, Pachygyria, Gray matter heterotopia ORPHA:370980
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Neonatal death, Cerebellar hypoplasia, Agyria, Lissencephaly, Agenesis of corpu... OMIM:616342
Panhypophysitis
Abnormal thalamic MRI signal intensity, Increased circulating prolactin concentration, Gonadotrop... ORPHA:95513
Poretti-Boltshauser Syndrome
Cerebellar dysplasia, Cerebellar cyst, Gray matter heterotopia, Dilated fourth ventricle, Cerebel... OMIM:615960
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Dysphagia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking OMIM:613954
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Increased circulating prolactin concentration, Gonadotrop... ORPHA:95512
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in childhood, Type II lissencephaly, Polymicrogyria, Partial agenesis of the... OMIM:614643
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Periventricular he... OMIM:618273
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Death in infancy, Focal T2 hyperintense thalamic lesion OMIM:619046
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus, Gray matter heterotopia, Chia... OMIM:207950
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami OMIM:617542
Oculoskeletodental Syndrome
Abnormality of thalamus morphology ORPHA:557003
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Pachygyria, Gray matter heterotopia ORPHA:2512
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Polymicrogyria, Hydrocephalus, Olivopontocerebellar hypoplasia, Hypoplasia... ORPHA:370959
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Microlissencephaly, Agenesis of corpus callosum, Cerebellar atrophy, Abn... ORPHA:89844
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Oculocerebrocutaneous Syndrome
Agenesis of corpus callosum, Dandy-Walker malformation, Orbital encephalocele, Gray matter hetero... OMIM:164180
Joubert Syndrome 30
Cerebellar atrophy, Dandy-Walker malformation, Superior cerebellar dysplasia, Gray matter heterot... OMIM:617622
Dystonia 1, Torsion, Autosomal Dominant
Dysphagia, Facial palsy, Inability to walk, Abnormal posturing OMIM:128100
Neurocutaneous Melanocytosis
Meningocele, Death in infancy, Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Dandy-W... ORPHA:2481
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Cerebellar hypoplasia, Pachygyria OMIM:608840
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Cerebellar hypoplasia, Gray matter heterotopia OMIM:300049
Spastic Paralysis, Infantile-Onset Ascending
Dysphagia, Abnormal lower motor neuron morphology OMIM:607225
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dysphagia, Axonal loss, Amyotrophic lateral sclerosis, Athetosis OMIM:300857
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology ORPHA:404440
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Falls, Abnormal neuron morphology, Short stepped shuffling gait, Spinocereb... ORPHA:412066
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology ORPHA:88619
Huntington Disease-Like 1
Gait disturbance, Restlessness, Bradykinesia, Gait ataxia, Abnormal posturing, Dysmetria ORPHA:157941
Neurodegeneration With Brain Iron Accumulation 4
Motor axonal neuropathy, Gait disturbance, Ataxia, Abnormal lower motor neuron morphology, Loss o... OMIM:614298
Boucher-Neuhauser Syndrome
Gait ataxia, Abnormal upper motor neuron morphology, Ataxia OMIM:215470
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Hydrocephalus, Abnormality of neuronal mi... ORPHA:899
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology ORPHA:435638
Glutathionuria
Agenesis of corpus callosum, Gray matter heterotopia OMIM:231950
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hypothalamic lute... ORPHA:231720
Amyotrophic Lateral Sclerosis 1
Dysphagia, Pseudobulbar paralysis, Degeneration of anterior horn cells, Amyotrophic lateral scler... OMIM:105400
Cach Syndrome
T2 hypointense thalamus ORPHA:135
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebellum morphology, Gliosis, Cerebellar vermis hypoplasia, Abnormality of neuronal mi... OMIM:300957
Mohr-Tranebjaerg Syndrome
Dysphagia, Abnormal posturing OMIM:304700
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity ORPHA:444013
Leptin Receptor Deficiency
Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Abnormal hypotha... OMIM:614963
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Dysphagia, Loss of ambulation, Amyotrophic lateral sclerosis OMIM:613435
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology ORPHA:300570
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:614373
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology ORPHA:2959
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology ORPHA:70474
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum ORPHA:2772
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Machado-Joseph Disease Type 3
Progressive cerebellar ataxia, Abnormal lower motor neuron morphology, Spinocerebellar tract dege... ORPHA:276244
Thanatophoric Dysplasia Type 2
Encephalocele, Holoprosencephaly, Abnormality of neuronal migration, Hydrocephalus ORPHA:93274
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Hydrocephalus, Communicating hydrocephalus, Simplified gyral pattern, Gray matter h... OMIM:615219
Neuroferritinopathy
Abnormal thalamic MRI signal intensity, T2 hypointense thalamus ORPHA:157846
Abcd Syndrome
Neonatal death, Abnormal auditory evoked potentials, Aganglionic megacolon, Total intestinal agan... OMIM:600501
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity ORPHA:254930
Spastic Paraplegia 9A, Autosomal Dominant
Gait disturbance, Abnormal upper motor neuron morphology, Short stature, Gait ataxia, Spastic gait OMIM:601162
Vocal Cord And Pharyngeal Distal Myopathy
Unsteady gait, Difficulty walking, Decreased nerve conduction velocity, Amyotrophic lateral scler... ORPHA:600
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Amyotrophic lateral sclerosis OMIM:608030
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormality of thalamus morphology ORPHA:79139
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Disinhibition, Dysphagia, Amyotrophic lateral sclerosis OMIM:612069
Sporadic Infantile Bilateral Striatal Necrosis
Gait disturbance, Titubation, Dysphagia, Bradykinesia, Gait ataxia, Abnormal posturing ORPHA:225147
Frontotemporal Dementia
Polyphagia, Amyotrophic lateral sclerosis, Disinhibition OMIM:600274
Rhombencephalosynapsis
Fusion of the left and right thalami ORPHA:59315
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Dysphagia, Amyotrophic lateral sclerosis OMIM:617892
Amyotrophic Lateral Sclerosis 18
Dysphagia, Amyotrophic lateral sclerosis OMIM:614808
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity ORPHA:485421
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum, Pachygyria, Cerebellar hypoplasia, Periventricular heterotopia ORPHA:255138
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing, Growth delay OMIM:614857
Vici Syndrome
Hypoplasia of the pons, Death in infancy, Gray matter heterotopia, Cerebellar hypoplasia, Agenesi... ORPHA:1493
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Hydrocephalus, Pachygyria, Lissencephaly,... ORPHA:35107
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Polymicrogyria, Macrogyria, Exencephaly, Pachygyria, L... ORPHA:2211
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Holoprosencephaly 14
Partial agenesis of the corpus callosum, Hydrocephalus, Aqueductal stenosis, Alobar holoprosencep... OMIM:619895
Joubert Syndrome
Encephalocele, Polymicrogyria, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormality of neuron... ORPHA:475
Cntnap2-Related Developmental And Epileptic Encephalopathy
Cerebellar vermis atrophy, Abnormality of neuronal migration, Abnormal neuron morphology ORPHA:163681
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Cerebellar vermis hypopla... ORPHA:157
Periventricular Nodular Heterotopia 7
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Leigh Syndrome
Abnormal thalamic MRI signal intensity ORPHA:506
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity ORPHA:83597
Hydranencephaly
Dysgenesis of the thalamus, Thalamic edema, Atrophic pituitary gland ORPHA:2177
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus ORPHA:2655
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Neonatal death, Hydrocephalus OMIM:187600
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Polymicrogyria, Cerebellar hypoplasia, Gray matter heterotopia OMIM:617397
Aceruloplasminemia
Abnormal thalamic MRI signal intensity ORPHA:48818
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Spina bifida, Abnormality of neuronal mig... ORPHA:2671
Joubert Syndrome With Oculorenal Defect
Encephalocele, Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Hydrocephalus ORPHA:2318
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum ORPHA:2518
Congenital Disorder Of Deglycosylation 2
Polymicrogyria, Partial agenesis of the corpus callosum, Gray matter heterotopia, Hypothalamic ha... OMIM:619775
Alkuraya-Kucinskas Syndrome
Cerebellar dysplasia, Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Lissencephal... OMIM:617822
3C Syndrome
Hydrocephalus, Death in infancy, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malformation,... ORPHA:7
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Galloway-Mowat Syndrome
Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration ORPHA:2065
Meningioma
Focal T2 hypointense thalamic lesion, Increased circulating prolactin concentration, Neoplasm of ... ORPHA:2495
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity ORPHA:845
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami OMIM:619306
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Leprosy
Abnormality of the seventh cranial nerve, Steppage gait, Abnormal autonomic nervous system physio... ORPHA:548
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Agenesis of cerebellar vermis, Hydrocephalus, Communicating hydrocephalus,... OMIM:615287
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Dysphagia, Amyotrophic lateral sclerosis, Ataxia OMIM:615911
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Cerebellar vermis hypopla... ORPHA:228308
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Agenesis of corpus callosum, Da... OMIM:618476
Amyotrophic Lateral Sclerosis 8
Dysphagia, Loss of ambulation, Amyotrophic lateral sclerosis OMIM:608627
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria, Neonatal death OMIM:614887
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Ataxia, Difficulty walking, Tip-toe gait, Amyotrophic lateral sclerosis, Head ... ORPHA:300605
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Abnormality of neuronal migration, Agenesis of corpus callosum ORPHA:261236
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Colpocephaly, Hydrocephalus OMIM:619833
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage ORPHA:464321
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele, Aplasia/Hypoplasia of the cerebellum, Cerebellar vermis h... ORPHA:1454
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Periventricular heterotopia OMIM:614105
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Gray matter heterotopia, Neonatal death, Pachygyria, Cerebellar vermis hy... OMIM:620024
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness ORPHA:100070
Man1B1-Cdg
Cerebellar hypoplasia, Periventricular heterotopia ORPHA:397941
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus ORPHA:1860
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Agitation ORPHA:803
Unilateral Polymicrogyria
Pseudobulbar paralysis, Abnormal posturing, Giant somatosensory evoked potentials ORPHA:268943
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Death in infancy, Abnormality of neuronal migration, Agenesis of corpus callosum OMIM:608836
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Lobar holoprosencephaly,... ORPHA:468631
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume ORPHA:168577
Craniopharyngioma
Hypopituitarism, Increased circulating prolactin concentration, Abnormal hypothalamus morphology,... ORPHA:54595
Coffin-Lowry Syndrome
Death in early adulthood, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum ORPHA:192
Radio-Tartaglia Syndrome
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619312
Holoprosencephaly 7
Fusion of the left and right thalami, Panhypopituitarism OMIM:610828
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity ORPHA:79138
Aicardi Syndrome
Polymicrogyria, Partial agenesis of the corpus callosum, Spina bifida, Lateral ventricle dilatati... OMIM:304050
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Interhypothalamic adhesion, Periventricular heterotopia OMIM:618929
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon ORPHA:2720
6Q Terminal Deletion Syndrome
Colpocephaly, Polymicrogyria, Gray matter heterotopia, Cerebellar hypoplasia, Abnormality of neur... ORPHA:75857
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Simplified gyral pattern, Gray matter heterotopia, Pachygyri... OMIM:601390
Acromelic Frontonasal Dysostosis
Encephalocele, Periventricular nodular heterotopia, Retrocerebellar cyst, Gray matter heterotopia... OMIM:603671
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Gray matte... ORPHA:314679
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Abnormality of neuronal migration ORPHA:2754
Pagod Syndrome
Encephalocele, Spina bifida, Meningocele, Death in infancy, Abnormality of neuronal migration ORPHA:991
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Vici Syndrome
Dysphagia, Postnatal growth retardation, Abnormal posturing OMIM:242840
Genitourinary And/Or Brain Malformation Syndrome
Colpocephaly, Polymicrogyria, Holoprosencephaly, Dysplastic corpus callosum, Gray matter heteroto... OMIM:618820
Ane Syndrome
Motor neuron atrophy, Delayed puberty, Short stature ORPHA:157954
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis, Gray matter heterotopia ORPHA:26791
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in childhood, Abnormal cortical gyration, Polymicrogyria, Colpocephaly, Agenesis of cerebel... OMIM:210710
Orofaciodigital Syndrome I
Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Cerebellar cyst, Gray matter heterot... OMIM:311200
Bohring-Opitz Syndrome
Agenesis of corpus callosum, Dandy-Walker malformation, Gray matter heterotopia OMIM:605039
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Bilateral perisylvian polymicrogyria, Perisylvian predominant thick cortex ... ORPHA:98889
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Anencephaly, Stillbirth, Gray matter heterotopia, Agenesis of corpus ... OMIM:236680
Holoprosencephaly
Encephalocele, Spinal dysraphism, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cer... ORPHA:2162
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Miller-Dieker Lissencephaly Syndrome
Lissencephaly, Gray matter heterotopia, Pachygyria, Agyria OMIM:247200
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:305450
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology ORPHA:314621
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Peroxisome Biogenesis Disorder 1A (Zellweger)
Death in childhood, Polymicrogyria, Gray matter heterotopia OMIM:214100
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Subcortical band heterotopia, Gray matter heterotopia OMIM:615546
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:3186
16Q24.3 Microdeletion Syndrome
Colpocephaly, Periventricular heterotopia ORPHA:261250
Arima Syndrome
Agenesis of cerebellar vermis, Gray matter heterotopia, Occipital meningocele, Dilated fourth ven... OMIM:243910
Orofaciodigital Syndrome Xiv
Polymicrogyria, Partial agenesis of the corpus callosum, Simplified gyral pattern, Occipital ence... OMIM:615948
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Periventricular heterotopia OMIM:618733
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum, Gray matter heterotopia OMIM:276300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Fontaine Progeroid Syndrome
Hydrocephalus, Death in infancy, Neonatal death, Gray matter heterotopia, Cerebellar hypoplasia, ... OMIM:612289
Periventricular Nodular Heterotopia 9
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:618918
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy ORPHA:2822
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration ORPHA:464311
Idiopathic Camptocormia
Syringomyelia, Myelitis, Amyotrophic lateral sclerosis ORPHA:1320
Smith-Lemli-Opitz Syndrome
Colpocephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Holoprosencephaly, Death in... OMIM:270400
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology ORPHA:68
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Agenesis of corpus callosum, Gray matter heterotopia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Agenesis of corpus callosum, Gray matter heterotopia ORPHA:352665
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Williams Syndrome
Death in early adulthood, Abnormality of the diencephalon ORPHA:904
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Dandy-Walker malformation, Partial agenesis of the corpus callosum, ... ORPHA:434179
Norrie Disease
Abnormality of the diencephalon ORPHA:649
Genitopatellar Syndrome
Agenesis of corpus callosum, Colpocephaly, Pachygyria, Periventricular heterotopia OMIM:606170
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Polymicrogyria, Agenesis of cerebellar vermis, Enlarged cerebellum, Lateral ventricle dilatation,... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Polymicrogyria, Agenesis of cerebellar vermis, Enlarged cerebellum, Lateral ventricle dilatation,... ORPHA:261552
Mowat-Wilson Syndrome
Polymicrogyria, Agenesis of cerebellar vermis, Enlarged cerebellum, Agenesis of corpus callosum, ... ORPHA:2152

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 Neurog2

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 Neurog2.

No publications found that use IMPC mice or data for Neurog2.

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
Neurog2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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