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Gene: Rbfox3 MGI:106368

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Gene Summary

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

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IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal response to new environment Rbfox3tm1a(EUCOMM)Hmgu HOM   Early adult 2.06×10-05
decreased grip strength Rbfox3tm1a(EUCOMM)Hmgu HOM Early adult 5.11×10-06
decreased circulating alkaline phosphatase level Rbfox3tm1a(EUCOMM)Hmgu HOM Early adult 2.23×10-07
increased startle reflex Rbfox3tm1a(EUCOMM)Hmgu HOM Early adult 1.53×10-05
abnormal tail movements Rbfox3tm1a(EUCOMM)Hmgu HOM   Early adult 1.01×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Emotional lability OMIM:617028
Progressive Supranuclear Palsy
Cognitive impairment, Falls, Dementia, Abnormal synaptic transmission, Impulsivity, Depression, D... ORPHA:683
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Emotional lability, Anxiety ORPHA:3198
Tay-Sachs Disease
Exaggerated startle response, Apathy, Psychomotor deterioration, Dementia OMIM:272800
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... ORPHA:309246
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Apathy, Dystonia, Dementia OMIM:272750
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Anxiety OMIM:184850
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Irritability OMIM:616881
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Exaggerated startle response, Memory impairment, Tremor, Lar... ORPHA:845
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Irritability OMIM:617864
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia, Anxiety ORPHA:438216
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Exaggerated startle response, Tremor OMIM:618056
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment OMIM:617527
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Decreased serum iron, Dystonia 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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