Gene Summary

Name:
RNA binding protein, fox-1 homolog (C. elegans) 3
Synonyms:
Hrnbp3,  NeuN,  Neuna60,  D11Bwg0517e

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal tail movements Rbfox3tm1a(EUCOMM)Hmgu HOM   Early adult 1.01×10-05
increased startle reflex Rbfox3tm1a(EUCOMM)Hmgu HOM Early adult 1.53×10-05
decreased circulating alkaline phosphatase level Rbfox3tm1a(EUCOMM)Hmgu HOM Early adult 6.68×10-09
abnormal response to new environment Rbfox3tm1a(EUCOMM)Hmgu HOM   Early adult 2.06×10-05

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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 Rbfox3 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 Rbfox3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Schizencephaly, Aggressive behavior, Abnormal corpus callosum ... OMIM:604317
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inertia, Inappropriate behavior, Abnormal neuron morphology, Falls, Shuffling gait, Bra... ORPHA:412066
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Seizure, Hyperactivity, Inability to walk, Progressive microcephaly, Irritability, Cerebral atrop... OMIM:616657
Mental Retardation, Autosomal Dominant 52
Seizure, Hyperactivity, Anxiety OMIM:617796
Landau-Kleffner Syndrome
Focal impaired awareness seizure, Seizure, Anxiety, Nocturnal seizures, Bilateral tonic-clonic se... ORPHA:98818
Mental Retardation, Autosomal Dominant 45
Seizure, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Mental Retardation, Autosomal Recessive 37
Seizure, Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Hyperactivity, Aggressive behavior ORPHA:356996
Rasmussen Subacute Encephalitis
Focal impaired awareness seizure, Subcortical cerebral atrophy, Bilateral tonic-clonic seizure wi... ORPHA:1929
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Seizure, Hyperactivity, Progressive microcephaly, Ataxia, Hypoplasia of... OMIM:613402
Saccharopinuria
Hypercystinemia, Cognitive impairment, Abnormality of circulating enzyme level, Hyperammonemia, T... ORPHA:3124
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Large basal ganglia, Cortical dysplasia, Depression, Absent septum pellucidum, Seizure,... ORPHA:88616
Mental Retardation, Autosomal Recessive 3
Hyperactivity, Progressive microcephaly OMIM:608443
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonus, Falls, Hyperactivity, Atonic seiz... ORPHA:2382
Glycine Encephalopathy
Aggressive behavior, Myoclonus, Seizure, Hyperactivity, Irritability, Impulsivity, Agenesis of co... OMIM:605899
Progressive Supranuclear Palsy
Dystonia, Dementia, Cognitive impairment, Memory impairment, Falls, Bradykinesia, Abnormal synapt... ORPHA:683
Juvenile Huntington Disease
Dystonia, Dementia, Neuronal loss in basal ganglia, Myoclonus, Bradykinesia, Seizure, Hyperactivi... ORPHA:248111
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Simplified gyral pattern, Seizure, Hyperactivity, Periventricular white matt... OMIM:619470
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Seizure, Hyperactivity, Ataxia, Cerebral atrophy, Mental deterioration OMIM:615924
Mental Retardation, Autosomal Dominant 43
Seizure, Hyperactivity, Cerebral atrophy, Anxiety, Hypoplasia of the corpus callosum, Microcephal... OMIM:616977
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Self-injurious behavior, Focal tonic seizure, A... ORPHA:485350
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Infantile spasms, Self-injurious behavior, Aggressive behavior, Seizure, Hyperactivity, Anxiety OMIM:619031
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Skin-picking, Abnormal neuron morphology, Aggressive behavior,... ORPHA:163681
Phenylketonuria
Aggressive behavior, Self-mutilation, Seizure, Hyperactivity, Irritability, Cerebral calcificatio... OMIM:261600
Cln5 Disease
Periventricular white matter hyperintensities, Anxiety, Dysmetria, Aggressive behavior, Seizure, ... ORPHA:228360
Developmental And Epileptic Encephalopathy 43
Seizure, Hyperactivity, Ataxia OMIM:617113
Late Infantile Neuronal Ceroid Lipofuscinosis
Seizure, Corpus callosum atrophy, Focal-onset seizure, Cerebral atrophy, Anxiety, Motor deteriora... ORPHA:168491
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Im... ORPHA:101039
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Hyperactivity ORPHA:436151
Aminoacylase 1 Deficiency
Seizure, Hyperactivity, Cerebral atrophy OMIM:609924
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Seizure, Hyperactivity, Ataxia, Hypoplasia of the corpus callosum, Cerebral ... OMIM:300983
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Hyperactivity, Periventri... OMIM:301008
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Hyperactivity, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Lethargy OMIM:274270
Ck Syndrome
Abnormal cerebral cortex morphology, Aggressive behavior, Seizure, Hyperactivity, Pachygyria, Irr... ORPHA:251383
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity OMIM:300271
Xq25 Microduplication Syndrome
Seizure, Hyperactivity, Anxiety, Hypoplasia of the corpus callosum ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Seizure, Hyperactivity, Anxiety, Hypoplasia of the corpus callosum OMIM:300979
Hyperprolinemia, Type I
Aggressive behavior, Seizure, Hyperactivity, Status epilepticus, Ataxia OMIM:239500
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Seizure, Hyperactivity, Inability to walk, Generalized myoclonic sei... OMIM:618090
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Microcephaly, Impulsivity OMIM:309548
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Ck Syndrome
Aggressive behavior, Seizure, Hyperactivity, Pachygyria, Irritability, Polymicrogyria, Microcephaly OMIM:300831
Tay-Sachs Disease
Psychomotor deterioration, Dementia, Apathy, Exaggerated startle response OMIM:272800
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Hyperactivity, Anxiety, Gait ataxia, Microcephaly OMIM:609425
Coffin-Siris Syndrome 8
Seizure, Hyperactivity, Aggressive behavior, Self-injurious behavior OMIM:618362
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Self-injurious behavior, Aggressive behavior, Seizure, Hyperactiv... OMIM:271980
Mannosidosis, Beta A, Lysosomal
Seizure, Hyperactivity, Aggressive behavior OMIM:248510
Stiff Person Spectrum Disorder
Agoraphobia, Anxiety, Emotional lability, Exaggerated startle response ORPHA:3198
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Caudate atrophy, Cognitive impairment, Myoclonus, Seizure,... ORPHA:363400
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Hyperactivity, Hydrocephalus, Anxie... OMIM:300558
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Hyperactivity, Microcephaly OMIM:300434
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Seizure, Hyperactivity, Decreased response to growth hormone stimulation tes... OMIM:615286
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Seizure, Hyperactivi... ORPHA:3077
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Seizure, Hyperactivity, Inability to walk, Hypoplasia of the corpu... ORPHA:500180
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Gm2 Gangliosidosis, Ab Variant
Anxiety, Cognitive impairment, Abnormal fear/anxiety-related behavior, Exaggerated startle response ORPHA:309246
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Seizure, Hyperactivity, Broad-based gait, Hypoplasia of the corpus callosum,... ORPHA:457260
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Psychomotor deterioration, Iron accumulation in globus pallidus, Seiz... ORPHA:35069
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Aggressive behavior, Simplified gyral pattern, Seizure, Hyperactivity, Hypoplasia of... OMIM:300354
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Seizure, Hyperactivity, Ataxia, Broad-based gait, Cessati... ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Microcephaly OMIM:615541
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity, Secondary microcephaly, Hypoplasia of the corpus callosum OMIM:617773
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Seizure, Hyperactivity, Inability to walk... OMIM:618718
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Seizure, Hyperactivity, Anxiety, Depression OMIM:619467
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Seizure, Hyperactivity, Ataxia, Generalized-onset seizure, Focal-onset seizu... OMIM:610042
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Microcephaly OMIM:618342
Intellectual Developmental Disorder, X-Linked 101
Seizure, Hyperactivity OMIM:300928
Myoclonic-Astatic Epilepsy
Simple febrile seizure, Generalized myoclonic-atonic seizure, Generalized myoclonic seizure, Hype... ORPHA:1942
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Bilateral tonic-clonic seizure, Self-injurious behavior, Aggressive behavior... ORPHA:382
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Seizure, Hyperactivity, Ataxia, Microcephaly OMIM:612716
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Cognitive impairment, Seizure, Hyperactivity, Ataxia, Decreased response... OMIM:601853
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscles ORPHA:166108
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Febrile seizure (within the age range of 3 months to 6 years), Happy demeanor, ... OMIM:614104
Clark-Baraitser Syndrome
Seizure, Hyperactivity, Aggressive behavior OMIM:617752
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Lewy bodies, Seizure, Hyperactivity, Dysdiadochokinesis, Emoti... OMIM:610217
Optic Atrophy 11
Dysmetria, Leukoencephalopathy, Hyperactivity, Ataxia, Microcephaly OMIM:617302
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Seizure, Hyperactivity, Broad-based gait, Hypoplasia of the corpus callosum,... OMIM:300958
Intellectual Developmental Disorder, Autosomal Recessive 38
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Self-mutilati... OMIM:615516
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Hyperactivity, Progressive microcephaly, Broad-based gait, Unsteady gait OMIM:617865
Mental Retardation, Autosomal Recessive 13
Seizure, Hyperactivity, Secondary microcephaly, Hypoplasia of the corpus callosum OMIM:613192
Hyperlysinemia, Type I
Seizure, Hyperactivity, Cognitive impairment OMIM:238700
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Myoclonus, Self-mutilation, Inappropriate laughter, Seizure,... OMIM:103050
Stiff-Person Syndrome
Agoraphobia, Anxiety, Opisthotonus, Exaggerated startle response OMIM:184850
Angelman Syndrome
Happy demeanor, Bilateral tonic-clonic seizure, Infantile spasms, Self-injurious behavior, Aggres... ORPHA:72
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Seizure, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder OMIM:301013
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral white matter atrophy, Aggressive behavior, Hyperactivity, Corpus callosum atrophy, Cereb... ORPHA:369939
Myopathy With Extrapyramidal Signs
Dystonia, Perisylvian polymicrogyria, Hypoplastic anterior limbs of the internal capsule, Encepha... OMIM:615673
Gm2-Gangliosidosis, Ab Variant
Dementia, Apathy, Exaggerated startle response OMIM:272750
X-Linked Adrenoleukodystrophy
Gait disturbance, Dementia, Cognitive impairment, Aggressive behavior, Inappropriate sexual behav... ORPHA:43
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Seizure, Hyperactivity, Ataxia, Microcephaly ORPHA:228402
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Seizure, Frontal cortical atrophy, Irrit... ORPHA:2388
Inverted Duplicated Chromosome 15 Syndrome
Self-biting, Aggressive behavior, Seizure, Hyperactivity, Microcephaly ORPHA:3306
Fragile X Syndrome
Seizure, Hyperactivity, Periventricular heterotopia OMIM:300624
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Myoclonus, Inappropriate laughter, Seizure, Ataxia, Hyperactivity... ORPHA:98794
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Megalencephaly, Abnormal corpus callosum morphology, Seizure, Hyperactivity, Ge... ORPHA:457485
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Limb myoclonus, Dysmetria, Seizure, Hyperactivity, Inability to walk, Ataxia, M... ORPHA:139396
Intellectual Developmental Disorder, X-Linked 21
Seizure, Hyperactivity, Impulsivity OMIM:300143
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Hyperactivity, Irritability, Abnormal cerebral white matter morphology, Hypo... ORPHA:391307
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Seizure, Hyperactivity, Aggressive behavior OMIM:615824
Mucopolysaccharidosis, Type Iiib
Seizure, Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Chromosome 2Q37 Deletion Syndrome
Seizure, Hyperactivity, Aggressive behavior, Self-injurious behavior OMIM:600430
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Seizure, Hyperactivity, Emotional lability, Low frustration tolerance, Agene... OMIM:309520
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Infantile spasms, Tonic seizure, Seizure, Hyperactivity, Microcephaly OMIM:619239
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Inappropriate laughter, Hyperactivity, Low frustration tolerance, Abnormal cereb... ORPHA:363686
19P13.3 Microduplication Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Self-injurious behavior, Hyperacti... ORPHA:447980
Intellectual Disability-Strabismus Syndrome
Gait disturbance, Aggressive behavior, Seizure, Hyperactivity, Impulsivity, Decreased response to... ORPHA:363528
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Self-biting, Aggressive behavior... OMIM:300912
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Self-mutilation, Seizure, Hyperactivity, Ataxia, Microcephaly ORPHA:52503
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Seizure, Hyperactivity, Ataxia, Anxiety OMIM:618430
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Seizure, Hyperactivity, Irritability, Anxiety, Atte... ORPHA:449291
Mental Retardation, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Dystonia, Febrile seizure (within the age range of 3 months to 6 year... ORPHA:1934
Citrullinemia Type Ii
Aggressive behavior, Seizure, Hyperactivity, Cerebral edema, Irritability, Memory impairment, Let... ORPHA:247585
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Mucopolysaccharidosis Type 3
Gait disturbance, Dementia, Loss of ambulation, Aggressive behavior, Progressive neurologic deter... ORPHA:581
16P12.1P12.3 Triplication Syndrome
Skin-picking, Decreased response to growth hormone stimulation test, Hyperactivity, Anxiety, Atte... ORPHA:485405
47,Xyy Syndrome
Increased circulating gonadotropin level, Seizure, Hyperactivity, Hydrocephalus, Impulsivity, Att... ORPHA:8
Lamb-Shaffer Syndrome
Seizure, Hyperactivity, Ataxia, Microcephaly ORPHA:530983
Angelman Syndrome
Paroxysmal bursts of laughter, Progressive gait ataxia, Seizure, Hyperactivity, Broad-based gait,... OMIM:105830
Glass Syndrome
Happy demeanor, Aggressive behavior, Seizure, Hyperactivity, Broad-based gait, Microcephaly OMIM:612313
Aromatic L-Amino Acid Decarboxylase Deficiency
Emotional lability, Limb tremor, Irritability, Exaggerated startle response OMIM:608643
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Aggressive behavior, Shuffling gait, Seizure, Hyperactivity, Low frustration tolerance, Microcephaly OMIM:300534
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Status epilepticus, Generalized-onset seizure, Self-biting OMIM:618314
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Aggressive behavior, Seizure, Hyperactivity, Agenesis of corpus callosum, Microcephaly OMIM:619148
Tay-Sachs Disease
Exaggerated startle response, Tremor, Increased serum beta-hexosaminidase, Anxiety, Memory impair... ORPHA:845
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Intellectual Developmental Disorder, Autosomal Recessive 71
Seizure, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Mucopolysaccharidosis, Type Iiic
Seizure, Hyperactivity, Motor deterioration OMIM:252930
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Self-mutilation, Seizure, Hyperactivity, Low frustration tolerance, Gait ataxia OMIM:300486
Wiedemann-Steiner Syndrome
Aggressive behavior, Abnormal corpus callosum morphology, Seizure, Hyperactivity, Low frustration... ORPHA:319182
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Tuberous Sclerosis Complex
Infantile spasms, Self-injurious behavior, Aggressive behavior, Noncommunicating hydrocephalus, D... ORPHA:805
21Q22.11Q22.12 Microdeletion Syndrome
Inappropriate crying, Self-injurious behavior, Seizure, Hyperactivity, Agenesis of corpus callosu... ORPHA:261323
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Cerebral degeneration, Dementia, Bradykinesia, Depression, Hyperactiv... OMIM:234200
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Partial agenesis of the corpus callosum, Bilateral tonic-clonic seizure, Tonic seizure, Self-inju... OMIM:619512
White-Sutton Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Self-injurious behavior, Aggressiv... ORPHA:468678
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Anxiety, Exaggerated startle response ORPHA:438216
Sandhoff Disease
Progressive psychomotor deterioration, Exaggerated startle response OMIM:268800
Koolen-De Vries Syndrome
Conspicuously happy disposition, Seizure, Hyperactivity, Impulsivity, Gray matter heterotopia, An... OMIM:610443
7Q11.23 Microduplication Syndrome
Dysmetria, Self-injurious behavior, Aggressive behavior, Simplified gyral pattern, Seizure, Hyper... ORPHA:96121
Brain-Lung-Thyroid Syndrome
Dystonia, Myoclonus, Falls, Cavum septum pellucidum, Hyperactivity, Ataxia, Elevated circulating ... ORPHA:209905
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior, Elevated circulating growth hormone concentration ORPHA:85327
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Torticollis, Seizure, Irritability... OMIM:619475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Joubert Syndrome 1
Occipital myelomeningocele, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Hemifaci... OMIM:213300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cognitive impairment, Exaggerated startle response OMIM:617527
Legius Syndrome
Dystonia, Cognitive impairment, Seizure, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:137605
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Febrile seizure (within the age range of 3 months to 6 years), Primary microcep... ORPHA:464306
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Seizure, Hyperactivity, Ataxia, Hippocampal atrophy, Unsteady gai... OMIM:614756
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Myoclonic spasms, Infantile spasms, Bilateral tonic-clonic seizure, Primary microce... ORPHA:447997
Coffin-Siris Syndrome
Aggressive behavior, Simplified gyral pattern, Seizure, Hyperactivity, Agenesis of corpus callosu... ORPHA:1465
Brooks-Wisniewski-Brown syndrome
Seizure, Hyperactivity, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly OMIM:300612
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Cognitive impairment, Aggressive behavior, Progressive neurologic de... ORPHA:580
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Seizure, Hyperactivity, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus call... ORPHA:457284
Smith-Lemli-Opitz Syndrome
Hypoplasia of the frontal lobes, Periventricular heterotopia, Holoprosencephaly, Aggressive behav... OMIM:270400
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353281
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Witteveen-Kolk Syndrome
Dysplastic corpus callosum, Decreased response to growth hormone stimulation test, Conspicuously ... OMIM:613406
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response ORPHA:521426
Mend Syndrome
Aggressive behavior, Seizure, Hyperactivity, Hydrocephalus, Hypoplasia of the corpus callosum ORPHA:401973
Argininemia
Seizure, Hyperactivity, Spastic gait, Irritability OMIM:207800
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353284
Monosomy 22Q13.3
Seizure, Hyperactivity, Hair-pulling, Agenesis of corpus callosum ORPHA:48652
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Decreased serum iron ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Rbfox3

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 Rbfox3.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
RBFOX3/NeuN is dispensable for visual function. PloS one (February 2018) Rbfox3tm1a(EUCOMM)Hmgu PMC5798780
Neuronal Splicing Regulator RBFOX3 (NeuN) Regulates Adult Hippocampal Neurogenesis and Synaptogenesis. PloS one (October 2016) Rbfox3tm1a(EUCOMM)Hmgu PMC5049801
RBFOX3/NeuN is Required for Hippocampal Circuit Balance and Function. Scientific reports (December 2015) Rbfox3tm1a(EUCOMM)Hmgu PMC4664964

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MGI Allele Allele Type Produced
Rbfox3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rbfox3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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