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Gene: Neurog2 MGI:109619

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Human diseases associated with Neurog2 (0 diseases)
Human diseases predicted to be associated with Neurog2 (279 diseases)

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	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
Neurog2^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Cre Knockin are available for this gene.

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