Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Neurog2 mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h... OMIM:604213
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... DECIPHER:29
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:607432
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Lissencephaly, X-Linked, 1
Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum... OMIM:300067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Lissencephaly 3
Cerebellar vermis hypoplasia, Periventricular laminar heterotopia, Pachygyria, Gray matter hetero... OMIM:611603
Microlissencephaly
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... ORPHA:1083
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... ORPHA:101029
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Primary Lateral Sclerosis, Juvenile
Decreased compound muscle action potential amplitude, Pseudobulbar paralysis, Dysphagia, Abnormal... OMIM:606353
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Cerebellar vermis atrophy OMIM:618185
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Abnormal peripheral action potential amplitude, Abnormality of the seventh cra... ORPHA:90117
Congenital Arthrogryposis With Anterior Horn Cell Disease
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Paucity of anterior horn mo... OMIM:611890
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Cerebellar hypoplasia,... ORPHA:352682
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Lissencephaly, Cerebellar hypoplasia, Periventricular ribbonlike heterotopia OMIM:618677
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance, Dysphagia ORPHA:247604
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Cerebellar hypoplasia OMIM:618572
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Unsteady gait, Limb ataxia, Gait ataxia, Progressive cere... ORPHA:95434
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Acalvaria
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl... ORPHA:945
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, Orthostatic hypotension, Ga... OMIM:263570
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Short stature, Cranial nerve compression, Abnormal ... ORPHA:52430
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Lissencephaly 5
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi... OMIM:615191
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... OMIM:604317
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Gray matter heterotopia, ... ORPHA:300573
Subependymal Nodular Heterotopia
Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ... ORPHA:101030
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait OMIM:611067
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Dystonia 31
Abnormal posturing, Difficulty walking, Dysphagia OMIM:619565
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Hemimegalencephaly
Gray matter heterotopia, Gliosis, Pachygyria, Polymicrogyria, Abnormal neuron morphology ORPHA:99802
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Aggressive behavior, Axonal loss, Inappropriate behavior, Disinhibition, Gait disturbance, Abnorm... OMIM:221770
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Inability to walk, Tip-toe gait, Gait disturbance, Attention deficit hyperacti... ORPHA:216866
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Partial agenesis of the ... OMIM:616171
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Dysphagia, Abnormal upper mot... ORPHA:35689
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia OMIM:616437
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion OMIM:619057
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Inability to walk, Difficulty walking, Dys... ORPHA:2590
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplif... OMIM:616212
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... OMIM:606070
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Alexander Disease Type I
Abnormal thalamic MRI signal intensity ORPHA:363717
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Progressive cerebellar ataxia, Disinhibition, Dysphagia, ... ORPHA:275872
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology ORPHA:467166
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Dysphagia OMIM:607225
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Polymicrogyria, Abnormal cortical gyration OMIM:619602
Leber Congenital Amaurosis
Encephalocele, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:65
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Short stature, Ataxia, Hea... OMIM:205100
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Miscarriage ORPHA:1947
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Gray matter heterotopia, Pachygyria, Cerebellar cyst ORPHA:370980
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of corpus callos... OMIM:616342
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Bradykinesia, Inappropriate behavior, Falls, Shuffling gait, Spinocerebella... ORPHA:412066
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... OMIM:615960
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking, Dysphagia OMIM:613954
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in infancy, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Part... OMIM:614643
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Simplified gyral pattern, Periventricular he... OMIM:618273
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Death in infancy, Focal T2 hyperintense thalamic lesion OMIM:619046
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Chia... OMIM:207950
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami OMIM:617542
Oculoskeletodental Syndrome
Abnormal thalamus morphology ORPHA:557003
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... ORPHA:370959
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal... ORPHA:89844
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Dystonia 1, Torsion, Autosomal Dominant
Inability to walk, Abnormal posturing, Facial palsy, Dysphagia OMIM:128100
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum, Dandy-Walker malform... OMIM:164180
Joubert Syndrome 30
Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Neurocutaneous Melanocytosis
Death in infancy, Meningocele, Abnormality of neuronal migration, Chiari malformation, Aplasia/Hy... ORPHA:2481
Periventricular Nodular Heterotopia 1
Cerebellar hypoplasia, Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Cerebellar hypoplasia, Pachygyria, Abnormality of neuronal migration OMIM:608840
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Athetosis, Amyotrophic lateral sclerosis, Dysphagia OMIM:300857
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Ataxia, Gait ataxia OMIM:215470
Huntington Disease-Like 1
Restlessness, Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Abnormal posturing ORPHA:157941
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Ataxia, Impulsivity, Optic atrophy, Gait disturbance, Los... OMIM:614298
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Macrogy... ORPHA:899
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology ORPHA:435638
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Dysph... OMIM:105400
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Gliosis, Abnormality of neuronal mi... OMIM:300957
Cach Syndrome
T2 hypointense thalamus ORPHA:135
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Dysphagia OMIM:304700
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... OMIM:614963
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity ORPHA:444013
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Amyotrophic lateral sclerosis, Dysphagia OMIM:613435
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal thalamus morphology ORPHA:300570
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:614373
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology ORPHA:2959
Frontotemporal Dementia
Polyphagia, Amyotrophic lateral sclerosis, Disinhibition, Inappropriate laughter OMIM:600274
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia OMIM:612069
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:2772
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Abnormality of neuronal migration ORPHA:93274
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co... OMIM:615219
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Peripheral axonal neuropathy, Degeneration of anterior ho... ORPHA:276244
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity ORPHA:157846
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity ORPHA:254930
Abcd Syndrome
Neonatal death, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal agan... OMIM:600501
Spastic Paraplegia 9A, Autosomal Dominant
Short stature, Gait ataxia, Gait disturbance, Abnormal upper motor neuron morphology, Spastic gait OMIM:601162
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Unsteady gait, Difficulty wal... ORPHA:600
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology ORPHA:79139
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gait disturbance OMIM:608030
Sporadic Infantile Bilateral Striatal Necrosis
Gait ataxia, Bradykinesia, Titubation, Gait disturbance, Dysphagia, Abnormal posturing ORPHA:225147
Rhombencephalosynapsis
Fusion of the left and right thalami ORPHA:59315
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis, Dysphagia OMIM:617892
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity ORPHA:485421
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Dysphagia OMIM:614808
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology ORPHA:1145
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Periventricular heterotopia ORPHA:255138
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Lethargy, Abnormal posturing OMIM:614857
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Desmosterolosis
Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Macrogy... ORPHA:35107
Vici Syndrome
Death in infancy, Hypoplasia of the pons, Gray matter heterotopia, Cerebellar hypoplasia, Agenesi... ORPHA:1493
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogy... ORPHA:2211
Holoprosencephaly 14
Cerebellar atrophy, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, P... OMIM:619895
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Po... ORPHA:475
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polym... ORPHA:157
Cntnap2-Related Developmental And Epileptic Encephalopathy
Cerebellar vermis atrophy, Abnormality of neuronal migration, Abnormal neuron morphology ORPHA:163681
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity ORPHA:83597
Leigh Syndrome
Abnormal thalamic MRI signal intensity ORPHA:506
Amyotrophic Lateral Sclerosis 8
Loss of ambulation, Amyotrophic lateral sclerosis, Dysphagia OMIM:608627
Hydranencephaly
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland ORPHA:2177
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria, Cerebellar hypoplasia OMIM:617397
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus ORPHA:2655
Aceruloplasminemia
Abnormal thalamic MRI signal intensity ORPHA:48818
Thanatophoric Dysplasia, Type I
Neonatal death, Gray matter heterotopia, Hydrocephalus OMIM:187600
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormality of neuronal migration ORPHA:2318
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Neu-Laxova Syndrome
Abnormal cortical gyration, Spina bifida, Pachygyria, Abnormality of neuronal migration, Macrogyr... ORPHA:2671
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:2518
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, H... OMIM:619775
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Dandy-Walker malfor... OMIM:617822
3C Syndrome
Death in infancy, Hydrocephalus, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cer... ORPHA:7
Galloway-Mowat Syndrome
Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration ORPHA:2065
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... ORPHA:2495
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity ORPHA:845
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami OMIM:619306
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
Steppage gait, Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal auto... ORPHA:548
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polym... ORPHA:228308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Hydrocephalu... OMIM:615287
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Dysphagia OMIM:615911
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Ag... OMIM:618476
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
16P13.11 Microdeletion Syndrome
Holoprosencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration ORPHA:261236
Peroxisome Biogenesis Disorder 13A (Zellweger)
Neonatal death, Gray matter heterotopia, Polymicrogyria OMIM:614887
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Ataxia, Head titubation, Inability to walk, Tip-toe gait, Difficul... ORPHA:300605
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Periventricular heterotopia OMIM:619833
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage ORPHA:464321
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness ORPHA:100070
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal mig... ORPHA:1454
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Periventricular heterotopia OMIM:614105
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Gray matter heterotopia, Neonatal death, Pa... OMIM:620024
Man1B1-Cdg
Cerebellar hypoplasia, Periventricular heterotopia ORPHA:397941
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus ORPHA:1860
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Agitation ORPHA:803
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Unilateral Polymicrogyria
Abnormal posturing, Giant somatosensory evoked potentials, Pseudobulbar paralysis ORPHA:268943
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration OMIM:608836
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Periventricular heterotopia, Pachygyria, Hypoplasia of the pons, Olivopontoce... ORPHA:468631
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume ORPHA:168577
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity ORPHA:79138
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the cerebellum, Death in early adulthood, Abnormality of neuronal migration ORPHA:192
Radio-Tartaglia Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619312
Holoprosencephaly 7
Fusion of the left and right thalami, Panhypopituitarism OMIM:610828
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Agenesis of corpus callosum, Periventricular heterotopia OMIM:618929
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Partial agenesis of the corpus callosum, Gray matter ... OMIM:304050
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep... ORPHA:75857
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... OMIM:601390
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon ORPHA:2720
Acromelic Frontonasal Dysostosis
Encephalocele, Retrocerebellar cyst, Gray matter heterotopia, Periventricular nodular heterotopia... OMIM:603671
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Agenesis of co... ORPHA:314679
Craniopharyngioma
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Abnormal ... ORPHA:54595
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Hypothalamic hamartoma ORPHA:2754
Pagod Syndrome
Encephalocele, Death in infancy, Spina bifida, Meningocele, Abnormality of neuronal migration ORPHA:991
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Chiari malformation, Holoprose... OMIM:618820
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Vici Syndrome
Postnatal growth retardation, Abnormal posturing, Dysphagia OMIM:242840
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Perisylvian predominant thick cortex pachygyria, Abnormality of neu... ORPHA:98889
Ane Syndrome
Motor neuron atrophy, Short stature, Delayed puberty ORPHA:157954
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Gliosis ORPHA:26791
Orofaciodigital Syndrome I
Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Hypothalami... OMIM:311200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical ... OMIM:210710
Bohring-Opitz Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:605039
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Holoprosencephaly
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Spinal dysraphism, Holoprosencep... ORPHA:2162
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Severe hydrocephalu... OMIM:236680
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:305450
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:247200
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology ORPHA:314621
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Polymicrogyria, Death in childhood OMIM:214100
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:3186
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
16Q24.3 Microdeletion Syndrome
Colpocephaly, Periventricular heterotopia ORPHA:261250
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Periventricular heterotopia, Partial agene... OMIM:615948
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Gray matte... OMIM:243910
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Periventricular heterotopia OMIM:618733
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Fontaine Progeroid Syndrome
Death in infancy, Cerebellar vermis hypoplasia, Periventricular heterotopia, Hydrocephalus, Gray ... OMIM:612289
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration ORPHA:464311
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy ORPHA:2822
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Syringomyelia, Myelitis ORPHA:1320
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Death in infancy, Periventricular heterotopia, Partial agenesis of the corpus... OMIM:270400
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology ORPHA:68
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
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
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Williams Syndrome
Death in early adulthood, Abnormality of the diencephalon ORPHA:904
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Per... ORPHA:434179
Norrie Disease
Abnormality of the diencephalon ORPHA:649
Genitopatellar Syndrome
Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Periventricular heterotopia, Enlarge... ORPHA:261537
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Periventricular heterotopia, Enlarge... ORPHA:261552
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Periventricular heterotopia, Enlarge... ORPHA:2152

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Neurog2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Neurog2.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

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