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 retina vasculature morphology | Tonslem1(IMPC)Bay | HET | Early adult | 3.39×10-05 | ||
embryonic lethality prior to organogenesis | Tonslem1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
preweaning lethality, complete penetrance | Tonslem2(IMPC)Bay | HOM | Early adult | 0.00 | ||
preweaning lethality, complete penetrance | Tonslem1(IMPC)Bay | HOM | Early adult | 0.00 | ||
thick ventricular wall | Tonslem1(IMPC)Bay | HET | Early adult | 3.86×10-05 | ||
increased heart left ventricle size | Tonslem1(IMPC)Bay | HET | Early adult | 2.38×10-06 |
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 associated to Tonsl by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Sponastrime Dysplasia | Intrauterine growth retardation, Rhizomelia, Disproportionate short-limb short stature | ORPHA:93357 | |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type | Rhizomelia, Disproportionate short-limb short stature | OMIM:271510 |
The table below shows human diseases predicted to be associated to Tonsl by phenotypic similarity.
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 Tonsl.
There are 1 publication which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. | American Journal of Human Genetics (February 2019) | Tonslem1(IMPC)Bay | PMC6408318 |
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 |
---|---|---|
Tonslem2(IMPC)Bay | Point Mutation | Mice |
Tonslem1(IMPC)Bay | Exon Deletion | Mice |
Tonsltm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Tonsltm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Tonsltm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | ES Cells |
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