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,  ngn2,  Atoh4,  bHLHa8

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
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Abnormal cerebellum morphology, Abnormal cerebral morphology, Abnormal neu... ORPHA:329228
Microcephaly 7, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:616080
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Agyria, Subcortical band heterotopia, Gray matter heterotopia OMIM:615412
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar hypo... OMIM:604213
Mental Retardation, Autosomal Recessive 34, With Variant Lissencephaly
Pachygyria, Lissencephaly OMIM:614499
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... OMIM:615411
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Cerebellar hypopl... OMIM:607432
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... OMIM:604317
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... OMIM:600348
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... ORPHA:101029
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebellar vermis hypopla... OMIM:611603
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Craniofacial Conodysplasia
Spinal cord compression ORPHA:85168
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Death in infancy, Agyria, Agenesis of corpus callosum, Lisse... OMIM:300067
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Cortical dysplasia, Micro... OMIM:618709
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Megalencephaly, Hydrocephalus OMIM:615938
Neuronopathy, Distal Hereditary Motor, Type Viib
Facial palsy, Abnormal lower motor neuron morphology OMIM:607641
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Cerebe... ORPHA:352682
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Thick cerebral cortex, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Periventricular ... OMIM:618677
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular heterotop... OMIM:608097
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Unilateral polymicrogyria, ... OMIM:610031
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Difficulty walking, Abnormal lower motor neuron morphology, Degeneration... OMIM:602433
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Abnormal anterior horn cell morphology, Dystonia, Difficulty walking, Paucity ... OMIM:611890
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus call... OMIM:615191
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Microcephaly, Cerebellar hypoplasia OMIM:618572
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Decreased thalamic volume, Simplifi... OMIM:619072
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Basal gang... OMIM:618193
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Leukoencephalopathy OMIM:613724
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Dysphagia, Abnormal peripheral action potential amplitu... ORPHA:90117
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Lissencephaly 4
Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Lisse... OMIM:614019
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Gray ... OMIM:617201
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Dysphagia, Spastic gait, Gait imbalance ORPHA:247604
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria OMIM:614115
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Dysphagia, Ataxia, Abnormal upper motor neuron morphology, Delayed puberty, Short statu... OMIM:607694
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Holoprosencephaly, Abnormality of neuronal mi... ORPHA:945
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Gait disturbance, Peripheral axonal neuropathy, Orthostat... OMIM:263570
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Hemimegalencephaly
Pachygyria, Gliosis, Gray matter heterotopia, Polymicrogyria, Abnormal neuron morphology, Hyperin... ORPHA:99802
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal lower motor neuron morphology, Progressive cer... ORPHA:95434
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Agenesis of corpus ... OMIM:617542
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Sensory axonal neuropathy, Abnormal mot... ORPHA:52430
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Bilateral Striopallidodentate Calcinosis
Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1980
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Dysphagia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnor... OMIM:205100
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Focal T2 hyperintense thalamic lesion OMIM:619057
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Cerebellar cyst, Abnormal cerebral white matter morphology, Ce... OMIM:613153
Lissencephaly 2
Thick cerebral cortex, Cerebellar hypoplasia, Microcephaly, 4-layered lissencephaly, Lissencephal... OMIM:257320
3-Hydroxyisobutyric Aciduria
Microcephaly, Congenital intracerebral calcification, Abnormality of neuronal migration OMIM:236795
Symmetrical Thalamic Calcifications
Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1314
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Cerebellar cyst, Abnormal cerebral white matter morphology, ... ORPHA:370980
Mental Retardation, Autosomal Dominant 13
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Abnormality of neuronal mig... OMIM:614563
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis OMIM:613954
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Dysphagia, Gait disturbance, Toe walking, Generalized dyst... ORPHA:216866
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Difficulty walking, Waddling gait, Abnormal lower motor neuron morphology OMIM:611067
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Meningocele, Polymicrogyria, Focal co... ORPHA:101030
Amyotrophic Lateral Sclerosis 21
Dysphagia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper ... OMIM:606070
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Dysphagia, Spastic gait OMIM:606353
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Gray matter heterotopia, Cerebellar cyst, Cereb... OMIM:615960
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Hypoplasia of the corpus callosum, Dys... ORPHA:300570
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Cereb... OMIM:616212
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration ORPHA:2216
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Neuroferritinopathy
T2 hypointense thalamus, Abnormal caudate nucleus morphology, Abnormal thalamic MRI signal intens... ORPHA:157846
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Abnormal putamen morphology, Cerebral edema ORPHA:88619
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of c... ORPHA:2512
Panhypophysitis
Panhypopituitarism, Pituitary hypothyroidism, Abnormality of the posterior pituitary, Abnormal th... ORPHA:95513
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Dysphagia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Dysphagia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Difficulty walking, Dysphagia, Abnormal lower motor neuron morphology, Waddlin... ORPHA:2590
Brain Small Vessel Disease 2
Polymicrogyria, Porencephalic cyst, Subcortical heterotopia, Schizencephaly OMIM:614483
Primary Lateral Sclerosis
Cervical spinal cord atrophy, Dysphagia, Atrophy of the spinal cord, Abnormal upper motor neuron ... ORPHA:35689
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Death in infancy OMIM:619046
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Abnormality of neuronal migration... ORPHA:89844
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, Polymicrogyr... OMIM:615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Gray matter heterotopia, Cerebellar hypoplasi... OMIM:615287
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormal periventricular white matter morphology, Cerebellar hypoplasia, Abnormality ... OMIM:608840
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Hydranencephaly, Abnormalit... ORPHA:2570
Adenohypophysitis
Panhypopituitarism, Pituitary hypothyroidism, Abnormal thalamic MRI signal intensity, Adrenocorti... ORPHA:95512
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Progressive cerebellar ataxia, Dysphagia, Abnormal lower ... ORPHA:275872
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ab... ORPHA:70474
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Type II lissencephaly, Gray matt... ORPHA:370959
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Cerebral atrophy, Focal T2 hyperintense thalamic lesi... ORPHA:79264
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Li... OMIM:218670
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Abnormal thalamic MRI signal intensity, Abnormal basa... ORPHA:363558
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Gait disturbance, Axonal loss, Peripheral demyelination OMIM:221770
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Gray matter heterotopia, Simplified gyral pattern, Colpocephaly, Lis... OMIM:615219
Leptin Receptor Deficiency
Decreased response to growth hormone stimuation test, Pituitary hypothyroidism, Abnormal hypothal... OMIM:614963
Joubert Syndrome 30
Superior cerebellar dysplasia, Cerebellar atrophy, Dandy-Walker malformation, Gray matter heterot... OMIM:617622
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy ORPHA:435638
Intellectual Developmental Disorder, X-Linked 12
Gliosis, Abnormal cerebral white matter morphology, Cerebellar vermis hypoplasia, Abnormality of ... OMIM:300957
Walker-Warburg Syndrome
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Cerebellar hypoplasia, Abnorma... ORPHA:899
Chiari Malformation Type Ii
Spina bifida, Agenesis of corpus callosum, Gray matter heterotopia, Arnold-Chiari malformation, M... OMIM:207950
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal intensity ORPHA:444013
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Death in infancy, Abnormality of neuronal migration, Mening... ORPHA:2481
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Dysplastic Cortical Hyperostosis
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Spastic Paralysis, Infantile-Onset Ascending
Dysphagia, Abnormal lower motor neuron morphology OMIM:607225
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia, Hypoplasia of the corpus ca... ORPHA:255138
Leber Congenital Amaurosis
Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of neuronal migration ORPHA:65
Hydranencephaly
Dysgenesis of the thalamus, Abnormal corpus striatum morphology, Hypoplastic hippocampus, Cerebra... ORPHA:2177
Cach Syndrome
Microcephaly, T2 hypointense thalamus, Cerebral atrophy, Dilation of lateral ventricles ORPHA:135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Su... OMIM:614643
Combined Oxidative Phosphorylation Defect Type 7
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Abnormal thalamic M... ORPHA:254930
Mohr-Tranebjaerg Syndrome
Dysphagia, Dystonia, Abnormal posturing OMIM:304700
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Microcephaly, Abnormality of neuronal migration ORPHA:2772
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malformation, Gray m... OMIM:164180
Japanese Encephalitis
Abnormality of thalamus morphology, Focal T2 hyperintense thalamic lesion, Abnormality of the int... ORPHA:79139
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology ORPHA:404440
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Gait disturbance, Dystonia, Facial palsy, Amyotrophic lateral sclerosis OMIM:167320
Lethal Congenital Contracture Syndrome 1
Neonatal death, Paucity of anterior horn motor neurons OMIM:253310
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Microcephaly ORPHA:2959
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Hypointensity of cerebral white matter on MRI, Abnormal periv... ORPHA:83597
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia OMIM:257100
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Secondary microcephaly, Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal... ORPHA:485421
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Gray matter heterotopia OMIM:187600
Lissencephaly Due To Lis1 Mutation
Cavum septum pellucidum, Pachygyria, Thick cerebral cortex, Anterior predominant thick cortex pac... ORPHA:95232
Amyotrophic Lateral Sclerosis 1
Pseudobulbar paralysis, Dysphagia, Degeneration of anterior horn cells, Amyotrophic lateral scler... OMIM:105400
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Cerebral atrophy, Hyperintensity of cerebral white matter on MRI ORPHA:1947
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Gait disturbance, Abnormal lower motor neuron morphology, Ataxia, Oromandibular dystoni... OMIM:614298
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Dysphagia, Axonal loss, Amyotrophic lateral sclerosis, Athetosis OMIM:300857
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Gait ataxia, Ataxia OMIM:215470
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Abnormal periventricular white matter morphology, Periventricular he... OMIM:618476
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Hypoplasia of the corpus callosum, Hypopituitarism, Retrocerebellar cyst... OMIM:603671
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia ORPHA:59315
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Gray matter heterotopia OMIM:300337
Leigh Syndrome
Focal T2 hyperintense basal ganglia lesion, Hypoplasia of the corpus callosum, Diffuse spongiform... ORPHA:506
Machado-Joseph Disease Type 3
Dystonia, Spinocerebellar tract degeneration, Progressive gait ataxia, Dysphagia, Abnormal lower ... ORPHA:276244
Cerebral Palsy, Spastic Quadriplegic, 3
Microcephaly, Gray matter heterotopia OMIM:617008
Huntington Disease-Like 1
Gait ataxia, Abnormal posturing, Gait disturbance, Bradykinesia, Dysmetria ORPHA:157941
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Dysphagia, Amyotrophic lateral sclerosis, Ataxia OMIM:615911
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration ORPHA:93274
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebral calcification, Microcephaly OMIM:617397
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Microcephaly, Cerebral cortical atrophy, Abnormality of neu... ORPHA:2518
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Microgastria-Limb Reduction Defects Association
Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Polymicrogyria, Agenes... OMIM:156810
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Abnormality of the diencephalon ORPHA:2165
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Vocal Cord And Pharyngeal Distal Myopathy
Difficulty walking, Dysphagia, Amyotrophic lateral sclerosis, Unsteady gait, Decreased nerve cond... ORPHA:600
Vici Syndrome
Gray matter heterotopia, Death in infancy, Cerebellar hypoplasia, Cerebral cortical atrophy, Agen... ORPHA:1493
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Abnormality of neuronal mi... ORPHA:157
Aceruloplasminemia
Abnormal corpus striatum morphology, Abnormal thalamic MRI signal intensity ORPHA:48818
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Amyotrophic lateral sclerosis OMIM:608030
Joubert Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Abnormality of neuronal ... ORPHA:475
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Exencephaly, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gyr... ORPHA:2211
Desmosterolosis
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Abnormality of neuronal migrat... ORPHA:35107
Neu-Laxova Syndrome
Spina bifida, Pachygyria, Absent septum pellucidum, Cerebellar hypoplasia, Abnormality of neurona... ORPHA:2671
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Abnormal posturing, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Gait ataxia, Abnormal posturing, Dysphagia, Gait disturbance, Bradykinesia, Titubation ORPHA:225147
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Lethargy, Abnormal posturing OMIM:614857
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
Tetrasomy 18P
Microcephaly, Abnormality of neuronal migration ORPHA:3307
Amyotrophic Lateral Sclerosis 18
Dysphagia, Amyotrophic lateral sclerosis OMIM:614808
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the corpus callosum, Fusion of the left and right thalami, Secondary microcephaly OMIM:619306
Thanatophoric Dysplasia
Hydrocephalus, Gray matter heterotopia ORPHA:2655
Alkuraya-Kucinskas Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Cerebellar dysplasia, Cerebel... OMIM:617822
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormali... ORPHA:2318
Hereditary Cryohydrocytosis With Reduced Stomatin
Microcephaly, Decreased thalamic volume, Cerebral white matter hypoplasia, Intracerebral perivent... ORPHA:168577
Galloway-Mowat Syndrome
Microcephaly, Pachygyria, Aqueductal stenosis, Abnormality of neuronal migration ORPHA:2065
Frontotemporal Dementia
Polyphagia, Amyotrophic lateral sclerosis OMIM:600274
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Gait disturbance, Short stature OMIM:601162
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Intracerebral periventricu... ORPHA:228308
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Dystonia, Axial dystonia, Difficulty walking, Dysphagia, Toe walking, Head tit... ORPHA:300605
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Gray matter heterotopia OMIM:219730
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:610828
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Dysphagia, Amyotrophic lateral sclerosis OMIM:612069
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Death in infancy, Abnormality of neuronal migration, Hydroc... ORPHA:7
Meningioma
Focal T2 hypointense thalamic lesion, Enlarged pituitary gland, Hypothalamic hypothyroidism, Abno... ORPHA:2495
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Periventricular heterotopia OMIM:618974
Tay-Sachs Disease
Hypointensity of cerebral white matter on MRI, Abnormal thalamic MRI signal intensity ORPHA:845
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Pachygyria, Abnormal periventricular white matter morphology, Agenesis of corpus callosum, Perive... ORPHA:468631
Familial Infantile Myoclonic Epilepsy
Periventricular nodular heterotopia, Cerebellar atrophy, Thick cerebral cortex, Abnormal hippocam... ORPHA:352582
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum, Abnormality of neuronal migration ORPHA:261236
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the basal ganglia, Thalamic hemorrhage, Cerebral calcification ORPHA:464321
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, Enlarged peripheral nerve, Abnormal auto... ORPHA:548
Craniopharyngioma
Abnormal hypothalamus morphology, Enlarged pituitary gland, Pituitary hypothyroidism, Hypopituita... ORPHA:54595
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Abnormality of n... ORPHA:192
6Q Terminal Deletion Syndrome
Gray matter heterotopia, Periventricular heterotopia, Hypoplasia of the corpus callosum, Abnormal... ORPHA:75857
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Intracerebral periventricular calcifications, Abnormality of neuronal migrat... OMIM:608836
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Gray matter heterotopia, Cerebellar vermis hyp... OMIM:304050
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Hypoplasia of the corpus ca... ORPHA:2822
Alg11-Cdg
Cerebral white matter atrophy, Gray matter heterotopia, Abnormal cerebral white matter morphology... ORPHA:280071
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Porencephalic cyst, Agenesis of corpus callosum, Gray matter heterotopia,... OMIM:311200
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon ORPHA:2720
Man1B1-Cdg
Cerebellar hypoplasia, Periventricular heterotopia ORPHA:397941
Amyotrophic Lateral Sclerosis 8
Dysphagia, Amyotrophic lateral sclerosis OMIM:608627
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Van Maldergem Syndrome 1
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Simplified gyral pattern,... OMIM:601390
9Q21.13 Microdeletion Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia ORPHA:531151
Thanatophoric Dysplasia Type 1
Hydrocephalus, Gray matter heterotopia ORPHA:1860
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Hypoplasia of the corpus callosum, Cerebral atrophy, Gray matter heterotopia OMIM:618797
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Dysplas... ORPHA:314679
Miller-Dieker Lissencephaly Syndrome
Cavum septum pellucidum, Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, ... OMIM:247200
Radio-Tartaglia Syndrome
Microcephaly, Agenesis of corpus callosum, Gray matter heterotopia OMIM:619312
Unilateral Polymicrogyria
Pseudobulbar paralysis, Giant somatosensory evoked potentials, Abnormal posturing ORPHA:268943
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Gray matter heterotopia, Holoprosencephaly... OMIM:618820
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Ectopic posterior pituitary, Abnormality of n... ORPHA:98889
Pagod Syndrome
Spina bifida, Death in infancy, Abnormality of neuronal migration, Meningocele, Microcephaly ORPHA:991
Duplication Of The Pituitary Gland
Microcephaly, Abnormality of the pituitary gland, Agenesis of corpus callosum, Abnormal hypothala... ORPHA:314621
Ritscher-Schinzel Syndrome 3
Periventricular nodular heterotopia, Cerebellar vermis hypoplasia, Death in infancy OMIM:619135
Hydrolethalus Syndrome 1
Agenesis of corpus callosum, Stillbirth, Gray matter heterotopia, Absent septum pellucidum, Arrhi... OMIM:236680
Intellectual Developmental Disorder, Autosomal Dominant 64
Periventricular nodular heterotopia, Microcephaly, Cerebellar hypoplasia OMIM:619188
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic Adhesion, Agenesis of corpus callosum, Periventricular heterotopia OMIM:618929
Vici Syndrome
Gray matter heterotopia, Cerebellar vermis hypoplasia, Schizencephaly, Microcephaly, Agenesis of ... OMIM:242840
Bohring-Opitz Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus call... OMIM:605039
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermi... ORPHA:1454
Holoprosencephaly
Aplasia/Hypoplasia of the cerebellum, Panhypopituitarism, Aplasia/Hypoplasia of the corpus callos... ORPHA:2162
Arima Syndrome
Gray matter heterotopia, Occipital meningocele, Dilated fourth ventricle, Aplasia/Hypoplasia of t... OMIM:243910
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Subcortical band heteroto... OMIM:615546
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Microcephaly, Abnormality of neuronal migration ORPHA:3186
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:2754
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis, Gray matter heterotopia ORPHA:26791
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Periventricular nodul... OMIM:618918
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Abnormal cerebral white matter morphology, Encephalomalacia, Ab... ORPHA:68
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Hypoplastic olfactory lobes, Gray matt... OMIM:214100
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Absent septum pellucidum, Periventricular heterotopia OMIM:618870
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Opitz-Kaveggia Syndrome
Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter heterotopia OMIM:305450
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Colpocephaly, Periventricular heterotopia ORPHA:261250
Ane Syndrome
Delayed puberty, Motor neuron atrophy, Short stature ORPHA:157954
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Cerebral cortical atrophy, ... ORPHA:464311
Superficial Siderosis
Abnormal corpus callosum morphology, Cerebellar atrophy, Dysgyria, Abnormal cerebellar vermis mor... ORPHA:247245
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Holoprosencephaly, Hypoplasia of the corpus callosum, Cerebellar hyp... OMIM:615948
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Periventricular heterotopia OMIM:618733
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Stillbirth, Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, A... OMIM:210710
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia, Hypoplasia of the corpus callosum, Cerebell... OMIM:612289
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum, Gray matter heterotopia OMIM:276300
Koolen-De Vries Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Gray matter heterotopia OMIM:610443
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Gray matter heterotopia ORPHA:453499
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Nijmegen Breakage Syndrome
Microcephaly, Abnormality of neuronal migration ORPHA:647
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Gray matter heterot... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Gray matter heterot... ORPHA:352665
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Hypoplasia of the corpus callosum, Dilated fourth ventricle, Dilated... ORPHA:434179
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia, Holoprosencephaly, Hypoplasia of the corpus callosum, Hypoplasia of ... OMIM:270400
Williams Syndrome
Cerebral cortical atrophy, Abnormality of the diencephalon, Microcephaly, Death in early adulthood ORPHA:904
Norrie Disease
Cerebral cortical atrophy, Abnormality of the diencephalon, Microcephaly ORPHA:649
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Arn... ORPHA:261537
Genitopatellar Syndrome
Microcephaly, Agenesis of corpus callosum, Colpocephaly, Periventricular heterotopia OMIM:606170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Arn... ORPHA:261552
Mowat-Wilson Syndrome
Periventricular heterotopia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter mo... ORPHA:2152
Proteus Syndrome
Gray matter heterotopia ORPHA:744

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.

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

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