Gene Summary

Name:
pecanex homolog 4
Synonyms:
Pcnxl4,  1810048J11Rik

IMPC Data Collections

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
impaired righting response Pcnx4em1(IMPC)J HOM   Early adult 4.06×10-05
abnormal auditory brainstem response Pcnx4em1(IMPC)J HOM   Early adult 5.85×10-07

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.

Electroretinography 3

Fundus file

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

1 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Pcnx4 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 Pcnx4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... OMIM:616515
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Dysdiadochokinesis, Impaired vibration sensation at ankles, Abn... ORPHA:101007
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal sensory im... OMIM:601382
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Somatic sensory dysfunctio... ORPHA:320401
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Enhancement of the C-reflex, Jerk-locked premyoclonus spikes, ... OMIM:615127
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, EEG with photoparoxysmal ... OMIM:613608
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Impaired distal vibration sensation, Dec... OMIM:601455
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... ORPHA:52368
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Tem... ORPHA:1215
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Somatic sensory dysfunction, Hand tremor, Impaired pain sensation, ... ORPHA:101085
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Acroparesthesia, Decreased nerve cond... ORPHA:206443
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosen... ORPHA:99027
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... OMIM:616881
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Ataxia, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Acroparesthesia, Somatic sensory dysf... ORPHA:206448
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hyperesthesia, Hearing... ORPHA:206436
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megaco... OMIM:609136
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Resting tre... ORPHA:909
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Tremor, Absent bra... ORPHA:90321
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A... ORPHA:79330
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, ... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, ... OMIM:216400
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
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 Pcnx4

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 Pcnx4.

No publications found that use IMPC mice or data for Pcnx4.

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MGI Allele Allele Type Produced
Pcnx4tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pcnx4em1(IMPC)J Exon Deletion Mice
Pcnx4tm407043(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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