Gene Summary

Name:
solute carrier family 8 (sodium/lithium/calcium exchanger), member B1
Synonyms:
Slc24a6,  NCKX6,  NCLX

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
abnormal sinus arrhythmia Slc8b1em1(IMPC)J HOM Early adult 8.16×10-05
abnormal coat appearance Slc8b1em1(IMPC)J HOM Early adult 3.93×10-05
impaired righting response Slc8b1em1(IMPC)J HOM Early adult 1.76×10-07
decreased exploration in new environment Slc8b1em1(IMPC)J HOM Early adult 2.33×10-05
abnormal sleep behavior Slc8b1em1(IMPC)J HOM   Early adult 4.34×10-05

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.

Sleep Wake

Wake state (bmp file)

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

8 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Slc8b1 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 Slc8b1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Ataxia, Memory impairment, Dementia OMIM:604121
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Ataxia, Resting tremor, Mental deterioration, Head tremor, Memory impairment ORPHA:314404
Narcolepsy 3
Narcolepsy OMIM:609039
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Narcolepsy 7
Narcolepsy OMIM:614250
Narcolepsy 1
Narcolepsy OMIM:161400
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Niemann-Pick Disease Type C
Narcolepsy, Ataxia, Axial dystonia, Apathy, Cognitive impairment, Intention tremor, Mental deteri... ORPHA:646
African Trypanosomiasis
Narcolepsy, Apathy, Alopecia, Anxiety, Arrhythmia, Myocarditis, Pericarditis, Third degree atriov... ORPHA:3385
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Self-injurious behavior, Aggressive behavior, Emotional lability, Impaired pain sensa... ORPHA:293987

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 Slc8b1

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 Slc8b1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Slc8b1tm43785(L1L2_st2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc8b1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Slc8b1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc8b1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Slc8b1em1(IMPC)J Indel Mice

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