Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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 sleep behavior | Slc8b1em1(IMPC)J | HOM | Early adult | 4.34×10-05 | ||
decreased exploration in new environment | Slc8b1em1(IMPC)J | HOM | Early adult | 2.33×10-05 | ||
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 |
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 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, Narcolepsy, Ataxia, Dementia | OMIM:604121 | |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome | Mental deterioration, Memory impairment, Depression, Resting tremor, Narcolepsy, Head tremor, Ataxia | ORPHA:314404 | |
Narcolepsy 3 | Narcolepsy | OMIM:609039 | |
Narcolepsy 1 | Narcolepsy | OMIM:161400 | |
Narcolepsy 7 | Narcolepsy | OMIM:614250 | |
Niemann-Pick Disease Type C | Progressive neurologic deterioration, Mental deterioration, Depression, Narcolepsy, Chorea, Limb ... | ORPHA:646 | |
African Trypanosomiasis | Alopecia, Somatic sensory dysfunction, Narcolepsy, Paresthesia, Tremor, Irritability, Delirium, C... | ORPHA:3385 | |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome | Narcolepsy, Impaired pain sensation, Depression, Emotional lability | ORPHA:293987 |
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.
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 |
Slc8b1tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Slc8b1tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | ES Cells |
Slc8b1tm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
Slc8b1em1(IMPC)J | Indel | Mice |
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