Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Neurog2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Neurog2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
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
Neurog2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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