Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
spectrin repeat containing, nuclear envelope family member 4
Synonyms:
0610012K07Rik,  AI428936,  nesprin-4

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 Syne4 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.

The table below shows human diseases associated to Syne4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 76
Progressive sensorineural hearing impairment OMIM:615540

The table below shows human diseases predicted to be associated to Syne4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Global brain atrophy, Caudate atrophy, Absent brainstem auditory response... ORPHA:52368
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairm... OMIM:201050
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Brain atrophy, Cerebellar atrophy, Abnormal auditory evoked potentials, Sensori... OMIM:619260
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Diffuse cerebral atrophy ORPHA:3240
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials, Cerebellar atrophy OMIM:193700
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Atrophy of the spinal cord, Abnormal auto... ORPHA:99027
Charcot-Marie-Tooth Disease Type 1F
Cervical spinal cord atrophy, Absent brainstem auditory responses, Sensorineural hearing impairme... ORPHA:101085
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Hearing impairment, Optic atrophy, Decreased nerv... ORPHA:206436
Deafness, Autosomal Recessive 76
Progressive sensorineural hearing impairment OMIM:615540
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Low-set ears, Posteriorly rotated ears, Ab... ORPHA:171929
Cockayne Syndrome Type 1
Macrotia, Hearing impairment, Absent brainstem auditory responses, Abnormality of peripheral nerv... ORPHA:90321
Cerebrotendinous Xanthomatosis
Global brain atrophy, Abnormal motor evoked potentials, Cerebellar atrophy, Abnormal auditory evo... ORPHA:909
Cockayne Syndrome A
Cerebral atrophy, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural he... OMIM:216400
Cockayne Syndrome B
Cerebral atrophy, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural he... OMIM:133540
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973

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 Syne4

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 Syne4.

No publications found that use IMPC mice or data for Syne4.

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MGI Allele Allele Type Produced
Syne4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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