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Gene: Nxph3 MGI:1336188

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
neurexophilin 3
Synonyms:
N/A

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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.

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 Nxph3 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 Nxph3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Gm2 Gangliosidosis, Ab Variant
Cognitive impairment, Chorea, Exaggerated startle response, Dystonia ORPHA:309246
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking ORPHA:320406
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Chorea, Exaggerated startle response, Short attention span OMIM:617864
Gm2-Gangliosidosis, Ab Variant
Chorea, Dementia, Exaggerated startle response, Dystonia OMIM:272750
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia ORPHA:438216
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia OMIM:618056
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Ataxia OMIM:616881
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Sandhoff Disease
Progressive psychomotor deterioration, Exaggerated startle response, Ataxia, Impaired temperature... OMIM:268800
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Gait di... ORPHA:845
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment OMIM:617527
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Broad-based gait, Exaggerated startle response, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Attention deficit hyperactivity disorder 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 Nxph3

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 Nxph3.

No publications found that use IMPC mice or data for Nxph3.

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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
Nxph3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Nxph3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nxph3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nxph3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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