Gene: Slc8b1 MGI:2180781

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Gene Summary

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

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 coat appearance Slc8b1em1(IMPC)J HOM Early adult 3.74×10-05
abnormal sleep behavior Slc8b1em1(IMPC)J HOM   Early adult 9.22×10-05
decreased exploration in new environment Slc8b1em1(IMPC)J HOM Early adult 7.46×10-06
abnormal sinus arrhythmia Slc8b1em1(IMPC)J HOM Early adult 7.39×10-05
impaired righting response Slc8b1em1(IMPC)J HOM Early adult 1.65×10-07

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

1 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
Memory impairment, Ataxia, Narcolepsy, Dementia OMIM:604121
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Head tremor, Resting tremor, Ataxia, Memory impairment, Mental deterioration ORPHA:314404
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Narcolepsy 7
Narcolepsy OMIM:614250
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Paroxysmal supraventricular tachycardia, Short eyelashes, Sparse axillary hair, Absent eyebrow, F... OMIM:601375
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Tremor, Narcolepsy, Aggressive behavior, Dementia, Progress... ORPHA:646
African Trypanosomiasis
Tremor, Arrhythmia, Narcolepsy, Aggressive behavior, Pericarditis, Impaired proprioception, Pares... ORPHA:3385
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Aggressive behavior, Self-injurious 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.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
NCLX prevents cell death during adrenergic activation of the brown adipose tissue. Nature communications (July 2020) Slc8b1em1(IMPC)J PMC7334226
Impaired mitochondrial calcium efflux contributes to disease progression in models of Alzheimer's disease. Nature communications (August 2019) Slc8b1tm1a(EUCOMM)Wtsi PMC6715724
Spatial Separation of Mitochondrial Calcium Uptake and Extrusion for Energy-Efficient Mitochondrial Calcium Signaling in the Heart. Cell reports (September 2018) Slc8b1tm1c(EUCOMM)Wtsi PMC6226263
The mitochondrial Na+/Ca2+ exchanger is essential for Ca2+ homeostasis and viability. Nature (April 2017) Slc8b1tm1a(EUCOMM)Wtsi PMC5731245

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

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