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

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 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
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Dementia, Progressive cerebellar ataxia, Difficulty walking, Memory impairment ORPHA:85292
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Cognitive impairment, Exaggerated startle response ORPHA:309246
Gm2-Gangliosidosis, Ab Variant
Dystonia, Chorea, Dementia, Exaggerated startle response OMIM:272750
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Tay-Sachs Disease
Psychomotor deterioration, Dementia, Exaggerated startle response OMIM:272800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Impaired vibration sensation in the lower limbs, Difficulty walking, Exaggerated startle response ORPHA:320406
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Exaggerated startle response ORPHA:3198
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Choreoathetosis, Torticollis, Limb tremor, Exaggerated startle response, Limb dystonia... OMIM:608643
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Sandhoff Disease
Progressive psychomotor deterioration, Impaired temperature sensation, Ataxia, Exaggerated startl... OMIM:268800
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Broad-based gait ORPHA:438216
Tay-Sachs Disease
Gait disturbance, Dystonia, Dysmetria, Exaggerated startle response, Laryngeal dystonia, Tremor, ... ORPHA:845
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cognitive impairment, Exaggerated startle response OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Inability to walk, Exaggerated startle response, Broad-based gait ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, 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 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.

Order Mouse and ES Cells

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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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