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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, Atoh4, bHLHa8, ngn2

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 (277 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
Microcephaly 7, Primary, Autosomal Recessive	Simplified gyral pattern	OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive	Simplified gyral pattern	OMIM:616080
Periventricular Nodular Heterotopia 6	Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:615544
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Pachygyria, Lissencephaly	OMIM:614499
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria	OMIM:615411
Chudley-Mccullough Syndrome	Hydrocephalus, Gray matter heterotopia, Dysplastic corpus callosum, Cerebellar hypoplasia, Polymi...	OMIM:604213
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Band Heterotopia	Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of...	OMIM:600348
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c...	DECIPHER:29
Amyotrophic Lateral Sclerosis 16, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:614373
Lissencephaly 1	Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria	OMIM:607432
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli...	OMIM:604317
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency	Abnormal neuron morphology, Simplified gyral pattern, Abnormal cerebellum morphology	ORPHA:329228
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Agyria, Lissencephaly, Death in infancy, Pachygyria, Agenesis of corpus ...	OMIM:300067
Lissencephaly 3	Gray matter heterotopia, Polymicrogyria, Agyria, Cerebellar vermis hypoplasia, Lissencephaly, Pac...	OMIM:611603
Neuronopathy, Distal Hereditary Motor, Type Viib	Abnormal lower motor neuron morphology, Facial palsy	OMIM:607641
Microlissencephaly	Periventricular heterotopia, Polymicrogyria, Lissencephaly, Cerebellar atrophy, Simplified gyral ...	ORPHA:1083
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Sub-Cortical Nodular Heterotopia	Abnormality of neuronal migration, Agenesis of corpus callosum, Subcortical heterotopia, Polymicr...	ORPHA:101029
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormality of the seventh cranial nerve, Dysphagia, Abnormal peripheral action potential amplitu...	ORPHA:90117
Congenital Arthrogryposis With Anterior Horn Cell Disease	Facial diplegia, Inability to walk, Paucity of anterior horn motor neurons, Neonatal death, Perip...	OMIM:611890
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Agyria, Pachygyria, Gray matter heterotopia	ORPHA:1084
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus, Gray matter heterotopia, Dysgyria, Cerebellar hypoplasia, Type II lissencephaly, O...	ORPHA:352682
Amyotrophic Lateral Sclerosis 23	Amyotrophic lateral sclerosis, Degeneration of anterior horn cells	OMIM:617839
Periventricular Nodular Heterotopia 8	Periventricular nodular heterotopia	OMIM:618185
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration, Hydrocephalus	OMIM:618709
Cortical Malformations, Occipital	Pachygyria, Polymicrogyria	OMIM:614115
Juvenile Primary Lateral Sclerosis	Gait imbalance, Spastic gait, Dysphagia, Abnormal upper motor neuron morphology	ORPHA:247604
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Periventricular nodular heterotopia, Cerebellar hypoplasia	OMIM:618572
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Periventricular ribbonlike heterotopia, Lissencephaly, Hypoplasia of the pons, Cerebellar hypoplasia	OMIM:618677
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Pallor o...	OMIM:602433
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Abnormal lower motor neuron morpholog...	ORPHA:95434
Polyglucosan Body Neuropathy, Adult Form	Gait disturbance, Orthostatic hypotension, Abnormal upper motor neuron morphology, Peripheral axo...	OMIM:263570
Acalvaria	Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal m...	ORPHA:945
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Cranial nerve compression, Short stature, Abnormal motor neuron mo...	ORPHA:52430
Coasy Protein-Associated Neurodegeneration	Abnormality of thalamus morphology	ORPHA:397725
Periventricular Nodular Heterotopia 7	Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:617201
Lissencephaly 5	Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Cerebellar vermis hypoplasia, Subc...	OMIM:615191
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Leukoencephalopathy With Dystonia And Motor Neuropathy	Abnormality of thalamus morphology	OMIM:613724
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	OMIM:611895
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4	Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait	OMIM:611067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Death in childhood, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cer...	OMIM:613153
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Thalamic calcification	OMIM:618824
Subependymal Nodular Heterotopia	Myelomeningocele, Gray matter heterotopia, Nasofrontal encephalocele, Polymicrogyria, Partial age...	ORPHA:101030
Primary Lateral Sclerosis, Juvenile	Dysphagia, Spastic gait, Abnormal upper motor neuron morphology	OMIM:606353
Hemimegalencephaly	Gray matter heterotopia, Gliosis, Polymicrogyria, Abnormal neuron morphology, Pachygyria	ORPHA:99802
Dystonia 31	Dysphagia, Difficulty walking, Abnormal posturing	OMIM:619565
Amyotrophic Lateral Sclerosis 11	Amyotrophic lateral sclerosis, Decreased nerve conduction velocity	OMIM:612577
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Decreased thalamic volume	OMIM:619072
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Hypoplasia of the pons, Polymicrogyria, Late...	ORPHA:300573
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion	OMIM:619057
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Abnormal cortical gyration, Neonatal death, Polymicrogyria	OMIM:619602
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Inability to walk, Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait, Dys...	ORPHA:2590
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus	OMIM:618193
Amyotrophic Lateral Sclerosis 21	Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Abnormal lower motor neuron m...	OMIM:606070
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Tip-toe gait, Gait disturbance, Optic disc pallor, Dysphagia, Abnormal posturing	ORPHA:216866
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Pachygyria, Polymicrogyria, Partial agenesis of the corpus callosum,...	OMIM:616212
Leber Congenital Amaurosis	Abnormality of neuronal migration, Encephalocele, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:65
Primary Lateral Sclerosis	Cervical spinal cord atrophy, Atrophy of the spinal cord, Abnormal upper motor neuron morphology,...	ORPHA:35689
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia	OMIM:616437
Congenital Muscular Dystrophy Without Intellectual Disability	Pachygyria, Gray matter heterotopia, Cerebellar cyst, Cerebellar atrophy	ORPHA:370980
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Miscarriage, T2 hypointense thalamus	ORPHA:1947
Lissencephaly 7 With Cerebellar Hypoplasia	Neonatal death, Cerebellar hypoplasia, Agyria, Lissencephaly, Death in infancy, Agenesis of corpu...	OMIM:616342
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Amyotrophic Lateral Sclerosis 2, Juvenile	Amyotrophic lateral sclerosis, Ataxia, Tip-toe gait, Short stature, Head titubation, Abnormal low...	OMIM:205100
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Panhypophysitis	Adrenocorticotropic hormone deficiency, Reduced circulating prolactin concentration, Panhypopitui...	ORPHA:95513
Poretti-Boltshauser Syndrome	Gray matter heterotopia, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar dyspl...	OMIM:615960
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Progressive cerebellar ataxia, Dysphagia, Abnormal upper ...	ORPHA:275872
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydrocephalus, Gray matter heterotopia, Anencephaly, Cerebellar hypoplasia, Type II lissencephaly...	OMIM:615287
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Gait disturbance, Abnormal upper motor neuron morphology, Peripheral demyelination, Axonal loss	OMIM:221770
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Focal T2 hyperintense thalamic lesion, Death in infancy	OMIM:619046
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking, Dysphagia	OMIM:613954
Adenohypophysitis	Adrenocorticotropic hormone deficiency, Reduced circulating prolactin concentration, Panhypopitui...	ORPHA:95512
Oculocerebrodental Syndrome	Abnormality of thalamus morphology	ORPHA:557003
Chiari Malformation Type Ii	Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Chiari malformation, Spina bifida, Agen...	OMIM:207950
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami	OMIM:617542
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Cerebellar atrophy, Abnormality of neuronal migration, Microlissencephal...	ORPHA:89844
Autosomal Recessive Primary Microcephaly	Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:2512
Congenital Muscular Dystrophy With Cerebellar Involvement	Hydrocephalus, Gray matter heterotopia, Abnormal cerebellum morphology, Occipital encephalocele, ...	ORPHA:370959
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Gray matter heterotopia, Agenesis of corpus callosum, Dandy-Walker malform...	OMIM:164180
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Simplified gyral pattern, Co...	OMIM:615219
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Joubert Syndrome 30	Dandy-Walker malformation, Superior cerebellar dysplasia, Gray matter heterotopia, Cerebellar atr...	OMIM:617622
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Pachygyria, Cerebellar hypoplasia	OMIM:608840
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Gray matter heterotopia, Cerebellar hypoplasia	OMIM:300049
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Dysphagia	OMIM:607225
Dystonia 1, Torsion, Autosomal Dominant	Dysphagia, Facial palsy, Inability to walk, Abnormal posturing	OMIM:128100
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormality of thalamus morphology	ORPHA:404440
Neurocutaneous Melanocytosis	Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Death in infancy, Meningocele, Abnorma...	ORPHA:2481
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Dysphagia, Axonal loss	OMIM:300857
Familial Acute Necrotizing Encephalopathy	Abnormality of thalamus morphology	ORPHA:88619
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hydrocephalus, Gray matter heterotopia, Encephalocele, Cerebellar hypoplasia, Polymicrogyria, Typ...	OMIM:614643
Walker-Warburg Syndrome	Hydrocephalus, Abnormal cerebellar vermis morphology, Cerebellar hypoplasia, Abnormal cortical gy...	ORPHA:899
3P25.3 Microdeletion Syndrome	Abnormality of thalamus morphology	ORPHA:435638
Lethal Congenital Contracture Syndrome 1	Neonatal death, Paucity of anterior horn motor neurons	OMIM:253310
Boucher-Neuhauser Syndrome	Ataxia, Gait ataxia, Abnormal upper motor neuron morphology	OMIM:215470
New-Onset Refractory Status Epilepticus	Abnormal thalamic MRI signal intensity	ORPHA:363558
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neonatal death	OMIM:257100
Leptin Receptor Deficiency	Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Abnormal hypotha...	OMIM:614963
Juvenile Neuronal Ceroid Lipofuscinosis	Focal T2 hyperintense thalamic lesion	ORPHA:79264
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go...	ORPHA:231720
Amyotrophic Lateral Sclerosis 1	Dysphagia, Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseudobulbar paral...	OMIM:105400
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration, Abnormal cerebellum morphology, Gliosis, Cerebellar vermis hyp...	OMIM:300957
Dysplastic Cortical Hyperostosis	Abnormality of neuronal migration	ORPHA:2204
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Periventricular nodular heterotopia, Encephalocele, Agenesis of corpus c...	OMIM:603671
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105550
Peroxisome Biogenesis Disorder 13A (Zellweger)	Abnormality of neuronal migration	OMIM:614887
Combined Oxidative Phosphorylation Defect Type 23	Abnormal thalamic MRI signal intensity	ORPHA:444013
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum	ORPHA:2772
Progeria-Short Stature-Pigmented Nevi Syndrome	Abnormality of thalamus morphology	ORPHA:2959
Leigh Syndrome With Cardiomyopathy	Abnormality of thalamus morphology	ORPHA:70474
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormality of thalamus morphology	ORPHA:300570
Edinburgh Malformation Syndrome	Abnormality of neuronal migration, Hydrocephalus	ORPHA:1895
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Dysphagia, Amyotrophic lateral sclerosis, Loss of ambulation	OMIM:613435
Huntington Disease-Like 1	Bradykinesia, Dysmetria, Gait disturbance, Gait ataxia, Abnormal posturing	ORPHA:157941
Mohr-Tranebjaerg Syndrome	Dysphagia, Abnormal posturing	OMIM:304700
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly, Encephalocele	ORPHA:93274
Abcd Syndrome	Total intestinal aganglionosis, Neonatal death, Aganglionic megacolon, Abnormal auditory evoked p...	OMIM:600501
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Difficulty walking, Unsteady ...	ORPHA:600
Neuroferritinopathy	Abnormal thalamic MRI signal intensity, T2 hypointense thalamus	ORPHA:157846
Neurodegeneration With Brain Iron Accumulation 4	Loss of ambulation, Ataxia, Optic atrophy, Abnormal lower motor neuron morphology, Gait disturban...	OMIM:614298
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
Machado-Joseph Disease Type 3	Progressive cerebellar ataxia, Degeneration of anterior horn cells, Peripheral axonal neuropathy,...	ORPHA:276244
Combined Oxidative Phosphorylation Defect Type 7	Abnormal thalamic MRI signal intensity	ORPHA:254930
Japanese Encephalitis	Focal T2 hyperintense thalamic lesion, Abnormality of thalamus morphology	ORPHA:79139
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Gait disturbance, Amyotrophic lateral sclerosis	OMIM:608030
Cach Syndrome	T2 hypointense thalamus	ORPHA:135
Rhombencephalosynapsis	Fusion of the left and right thalami	ORPHA:59315
Infantile-Onset X-Linked Spinal Muscular Atrophy	Degeneration of anterior horn cells, Abnormal anterior horn cell morphology	ORPHA:1145
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia, Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:618476
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal thalamic MRI signal intensity	ORPHA:70595
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular heterotopia, Agenesis of corpus callosum, Cerebellar hypoplasia, Pachygyria	ORPHA:255138
Vici Syndrome	Gray matter heterotopia, Hypoplasia of the pons, Cerebellar hypoplasia, Death in infancy, Agenesi...	ORPHA:1493
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal...	ORPHA:2211
Spastic Paraplegia 9A, Autosomal Dominant	Gait disturbance, Abnormal upper motor neuron morphology, Short stature	OMIM:601162
Sporadic Infantile Bilateral Striatal Necrosis	Bradykinesia, Gait disturbance, Titubation, Gait ataxia, Dysphagia, Abnormal posturing	ORPHA:225147
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529808
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529799
Amyotrophic Lateral Sclerosis 18	Dysphagia, Amyotrophic lateral sclerosis	OMIM:614808
Desmosterolosis	Hydrocephalus, Agenesis of corpus callosum, Abnormal cortical gyration, Polymicrogyria, Lissencep...	ORPHA:35107
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Growth delay, Lethargy, Abnormal posturing	OMIM:614857
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Abnormality of the diencephalon	ORPHA:2570
Hydranencephaly	Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland	ORPHA:2177
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal thalamic MRI signal intensity	ORPHA:485421
Joubert Syndrome	Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia, Abnormality of neuronal migration, E...	ORPHA:475
Holoprosencephaly 14	Periventricular heterotopia, Gray matter heterotopia, Hydrocephalus, Alobar holoprosencephaly, Aq...	OMIM:619895
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia, Abnormality of neuronal migration, P...	ORPHA:157
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Leigh Syndrome	Abnormal thalamic MRI signal intensity	ORPHA:506
Thanatophoric Dysplasia	Hydrocephalus, Gray matter heterotopia	ORPHA:2655
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration, Cerebellar vermis atrophy, Abnormal neuron morphology	ORPHA:163681
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Gray matter heterotopia	OMIM:219730
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Polyphagia	OMIM:600274
Acute Disseminated Encephalomyelitis	Abnormal thalamic MRI signal intensity	ORPHA:83597
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Dysphagia, Amyotrophic lateral sclerosis	OMIM:612069
Aceruloplasminemia	Abnormal thalamic MRI signal intensity	ORPHA:48818
Thanatophoric Dysplasia, Type I	Hydrocephalus, Gray matter heterotopia, Neonatal death	OMIM:187600
Neu-Laxova Syndrome	Abnormal cerebellar vermis morphology, Cerebellar hypoplasia, Abnormal cortical gyration, Polymic...	ORPHA:2671
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration, Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele	ORPHA:2318
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum	ORPHA:2518
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Lissencephaly, Cerebellar dysplasia	OMIM:617822
3C Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Death in infancy, Abnormality of neuronal mi...	ORPHA:7
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Hypothalamic hamartoma, Polymicrogyria, Partial agenesis of the corpus c...	OMIM:619775
Meningioma	Enlarged pituitary gland, Reduced circulating prolactin concentration, Hypothalamic hypothyroidis...	ORPHA:2495
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Galloway-Mowat Syndrome	Abnormality of neuronal migration, Pachygyria, Aqueductal stenosis	ORPHA:2065
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Fusion of the left and right thalami	OMIM:619306
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia, Abnormality of neuronal migration, P...	ORPHA:228308
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon	ORPHA:2165
Leprosy	Enlarged peripheral nerve, Steppage gait, Abnormal autonomic nervous system physiology, Abnormali...	ORPHA:548
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology	ORPHA:93941
Tay-Sachs Disease	Abnormal thalamic MRI signal intensity	ORPHA:845
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:261236
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia	OMIM:618974
Amyotrophic Lateral Sclerosis 8	Dysphagia, Amyotrophic lateral sclerosis, Loss of ambulation	OMIM:608627
Microgastria-Limb Reduction Defects Association	Fusion of the left and right thalami	OMIM:156810
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Dysphagia, Amyotrophic lateral sclerosis, Ataxia	OMIM:615911
Holoprosencephaly 7	Panhypopituitarism, Fusion of the left and right thalami	OMIM:610828
Juvenile Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Ataxia, Inability to walk, Tip-toe gait, Head titubation, Difficul...	ORPHA:300605
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Periventricular heterotopia, Hydrocephalus, Colpocephaly	OMIM:619833
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria	OMIM:617397
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage	ORPHA:464321
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Gray matter heterotopia, Neonatal death, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Pa...	OMIM:620024
Man1B1-Cdg	Periventricular heterotopia, Cerebellar hypoplasia	ORPHA:397941
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Joubert Syndrome With Hepatic Defect	Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Cerebellar vermis hypoplasia, Abnormality of...	ORPHA:1454
Thanatophoric Dysplasia Type 1	Hydrocephalus, Gray matter heterotopia	ORPHA:1860
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Abnormality of neuronal migration, Agenesis of corpus callosum, Death in infancy, Polymicrogyria	OMIM:608836
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Hypoplasia of the pons, Cerebellar hypoplasia, Polymicrogyria, Lisse...	ORPHA:468631
Hereditary Cryohydrocytosis With Reduced Stomatin	Decreased thalamic volume	ORPHA:168577
Unilateral Polymicrogyria	Giant somatosensory evoked potentials, Pseudobulbar paralysis, Abnormal posturing	ORPHA:268943
Bickerstaff Brainstem Encephalitis	Abnormal thalamic MRI signal intensity	ORPHA:79138
Craniopharyngioma	Enlarged pituitary gland, Abnormal hypothalamus morphology, Increased circulating prolactin conce...	ORPHA:54595
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Coffin-Lowry Syndrome	Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Death in early adulthood	ORPHA:192
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619312
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Periventricular heterotopia, Interhypothalamic Adhesion, Agenesis of corpus callosum	OMIM:618929
Van Maldergem Syndrome 1	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl...	OMIM:601390
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of the diencephalon	ORPHA:2720
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Abno...	ORPHA:75857
Aicardi Syndrome	Gray matter heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Cerebellar verm...	OMIM:304050
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Gray matter heterotopia, Agenesis of co...	ORPHA:314679
Pagod Syndrome	Death in infancy, Meningocele, Abnormality of neuronal migration, Encephalocele, Spina bifida	ORPHA:991
Arima Syndrome	Occipital meningocele, Gray matter heterotopia, Aplasia/Hypoplasia of the cerebellar vermis, Dila...	OMIM:243910
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Gray matter heterotopia, Holoprosencephaly, Polymicrogyria, Chiari ma...	OMIM:618820
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Cerebellar vermis hypoplasia, Hypothalamic hamartoma	ORPHA:2754
Hydrolethalus Syndrome 1	Gray matter heterotopia, Anencephaly, Severe hydrocephalus, Arrhinencephaly, Abnormal cortical gy...	OMIM:236680
Orofaciodigital Syndrome I	Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Hypothalamic hamartoma, Abnormal cortic...	OMIM:311200
Bohring-Opitz Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:605039
Bilateral Perisylvian Polymicrogyria	Bilateral perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Abnorma...	ORPHA:98889
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis	ORPHA:803
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis, Gray matter heterotopia	ORPHA:26791
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Holoprosencephaly	Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Abnorm...	ORPHA:2162
Vici Syndrome	Cerebellar vermis hypoplasia, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:242840
Van Maldergem Syndrome 2	Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia	OMIM:615546
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Ane Syndrome	Motor neuron atrophy, Delayed puberty, Short stature	ORPHA:157954
Miller-Dieker Lissencephaly Syndrome	Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly	OMIM:247200
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter heterotopia	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, Gray matter heterotopia, Polymicrogyria	OMIM:214100
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration, Holoprosencephaly	ORPHA:3186
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia, Colpocephaly	ORPHA:261250
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618733
Periventricular Nodular Heterotopia 9	Periventricular nodular heterotopia, Gray matter heterotopia, Polymicrogyria	OMIM:618918
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Gray matter heterotopia, Agenesis of cerebellar vermis, Pachygyria, Stillbirth, Agenesis of corpu...	OMIM:210710
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Orofaciodigital Syndrome Xiv	Periventricular heterotopia, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogyria, Simplified...	OMIM:615948
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:619132
Fontaine Progeroid Syndrome	Periventricular heterotopia, Gray matter heterotopia, Hydrocephalus, Cerebellar hypoplasia, Neona...	OMIM:612289
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Koolen-De Vries Syndrome	Gray matter heterotopia	OMIM:610443
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of neuronal migration	ORPHA:464311
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy	ORPHA:2822
Smith-Lemli-Opitz Syndrome	Periventricular heterotopia, Hydrocephalus, Holoprosencephaly, Partial agenesis of the corpus cal...	OMIM:270400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia	ORPHA:453499
Amoebiasis Due To Free-Living Amoebae	Abnormal hypothalamus morphology	ORPHA:68
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Syringomyelia, Myelitis	ORPHA:1320
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:352665
Nijmegen Breakage Syndrome	Abnormality of neuronal migration	ORPHA:647
Williams Syndrome	Abnormality of the diencephalon, Death in early adulthood	ORPHA:904
Orofaciodigital Syndrome Type 14	Partial agenesis of the corpus callosum, Periventricular heterotopia, Dilated fourth ventricle, D...	ORPHA:434179
Norrie Disease	Abnormality of the diencephalon	ORPHA:649
Genitopatellar Syndrome	Periventricular heterotopia, Colpocephaly, Agenesis of corpus callosum	OMIM:606170
Proteus Syndrome	Gray matter heterotopia	ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Periventricular heterotopia, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Polymicrogyria...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Periventricular heterotopia, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Polymicrogyria...	ORPHA:261552
Mowat-Wilson Syndrome	Periventricular heterotopia, Agenesis of cerebellar vermis, Polymicrogyria, Cerebellar vermis hyp...	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.

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

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