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 coat appearance Slc8b1em1(IMPC)J HOM Early adult 3.94×10-05
impaired righting response Slc8b1em1(IMPC)J HOM Early adult 1.76×10-07
decreased exploration in new environment Slc8b1em1(IMPC)J HOM Early adult 2.37×10-05
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.

Eye Morphology

Images Slit Lamp

1 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Electroretinography 2

Rod and cone PDF

4 Images

Auditory Brain Stem Response

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

8 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, Depression, Ataxia, Dementia, Narcolepsy OMIM:604121
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Memory impairment, Resting tremor, Depression, Head tremor, Ataxia, Narcolepsy, Mental deterioration ORPHA:314404
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Narcolepsy 7
Narcolepsy OMIM:614250
Niemann-Pick Disease Type C
Dementia, Axial dystonia, Depression, Chorea, Low frustration tolerance, Tremor, Limb dystonia, I... ORPHA:646
African Trypanosomiasis
Irritability, Impaired proprioception, Alopecia, Tremor, Delirium, Narcolepsy, Choreoathetosis, S... ORPHA:3385
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Impaired pain sensation, Narcolepsy, Emotional lability, Depression 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 9 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mitochondrial sodium/calcium exchanger NCLX regulates glycolysis in astrocytes, impacting on cognitive performance. Journal of neurochemistry (January 2023) Slc8b1tm1c(EUCOMM)Wtsi 36563047
CKII Control of Axonal Plasticity Is Mediated by Mitochondrial Ca2+ via Mitochondrial NCLX. Cells (December 2022) Slc8b1em1(IMPC)J PMC9777275
Essential role of the mitochondrial Na+/Ca2+ exchanger NCLX in mediating PDE2-dependent neuronal survival and learning. Cell reports (December 2022) Slc8b1em1(IMPC)J 36476859
Enhanced NCLX-dependent mitochondrial Ca2+ efflux attenuates pathological remodeling in heart failure. Journal of molecular and cellular cardiology (March 2022) Slc8b1tm1c(EUCOMM)Wtsi 35358843
Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation. Communications biology (June 2021) Slc8b1em1(IMPC)J PMC8172942
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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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